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Letteratura scientifica selezionata sul tema "Whole exome sequencing (WES)"

Autore: Grafiati

Pubblicato: 4 giugno 2021

Ultima modifica: 11 marzo 2023

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Articoli di riviste sul tema "Whole exome sequencing (WES)"

Belkadi, Aziz, Alexandre Bolze, Yuval Itan, Aurélie Cobat, Quentin B. Vincent, Alexander Antipenko, Lei Shang, Bertrand Boisson, Jean-Laurent Casanova e Laurent Abel. "Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants". Proceedings of the National Academy of Sciences 112, n. 17 (31 marzo 2015): 5473–78. http://dx.doi.org/10.1073/pnas.1418631112.

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We compared whole-exome sequencing (WES) and whole-genome sequencing (WGS) in six unrelated individuals. In the regions targeted by WES capture (81.5% of the consensus coding genome), the mean numbers of single-nucleotide variants (SNVs) and small insertions/deletions (indels) detected per sample were 84,192 and 13,325, respectively, for WES, and 84,968 and 12,702, respectively, for WGS. For both SNVs and indels, the distributions of coverage depth, genotype quality, and minor read ratio were more uniform for WGS than for WES. After filtering, a mean of 74,398 (95.3%) high-quality (HQ) SNVs and 9,033 (70.6%) HQ indels were called by both platforms. A mean of 105 coding HQ SNVs and 32 indels was identified exclusively by WES whereas 692 HQ SNVs and 105 indels were identified exclusively by WGS. We Sanger-sequenced a random selection of these exclusive variants. For SNVs, the proportion of false-positive variants was higher for WES (78%) than for WGS (17%). The estimated mean number of real coding SNVs (656 variants, ∼3% of all coding HQ SNVs) identified by WGS and missed by WES was greater than the number of SNVs identified by WES and missed by WGS (26 variants). For indels, the proportions of false-positive variants were similar for WES (44%) and WGS (46%). Finally, WES was not reliable for the detection of copy-number variations, almost all of which extended beyond the targeted regions. Although currently more expensive, WGS is more powerful than WES for detecting potential disease-causing mutations within WES regions, particularly those due to SNVs.

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Suspitsin, Evgeny N., Vladislav I. Tyurin, Evgeny N. Imyanitov e Anna P. Sokolenko. "Whole exome sequencing: principles and diagnostic capabilities". Pediatrician (St. Petersburg) 7, n. 4 (15 dicembre 2016): 142–46. http://dx.doi.org/10.17816/ped74142-146.

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Diagnostics of genetic diseases in clinical routine often presents a challenge. In particular, most of hereditary diseases are exceptionally rare and therefore unfamiliar to practicing physicians. Furthermore, even if the diagnosis of a particular genetic condition appears convincing on the level of clinical evidence, the causative mutation often remains unknown due to limitations in DNA testing procedures. Recently developed high-throughput sequencing technologies (Next Generation Sequencing, NGS; synonym: massive parallel sequencing) provide a breakthrough in medical genetics. While in the past genetic testing was limited to a single gene or, at best, to a small number of genes, NGS is compatible with a large-scale DNA analysis. One of the most popular applications of NGS is whole exome sequencing (WES), which allows simultaneous reading of coding sequences (exons) of all known genes. Although this technology exists only for a few years, its use has already led to discovery of the causes of more than 150 genetic syndromes. Furthermore, WES may be recommended for the use in clinical routine for selected patients with orphan disease, especially for the families with multiple affected relative. It is likely that WES will become a powerful screening tool in the near future. This review discusses general principles of WES as well as the applications of this technology in medicine.

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Zeng, Xiaofang, Tianyu Lian, Jianhui Lin, Suqi Li, Haikuo Zheng, Chunyan Cheng, Jue Ye, Zhicheng Jing, Xiaojian Wang e Wei Huang. "Whole-exome sequencing improves genetic testing accuracy in pulmonary artery hypertension". Pulmonary Circulation 8, n. 2 (26 febbraio 2018): 204589401876368. http://dx.doi.org/10.1177/2045894018763682.

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Sanger sequencing, the traditional “gold standard” for mutation detection, has been wildly used in genetic testing of pulmonary artery hypertension (PAH). However, with the advent of whole-exome sequencing (WES), few studies have compared the accuracy of WES and Sanger sequencing in routine genetic testing of PAH. PAH individuals were enrolled from Fu Wai Hospital and Shanghai Pulmonary Hospital. WES was used to analyze DNA samples from 120 PAH patients whose bone morphogenetic protein receptor type 2 (BMPR2) mutation statuses had been previously studied using Sanger sequencing. The Sanger sequencing and WES agreement was 98.3% (118/120) with near-perfect agreement (κ coefficient = 0.848). There was no significant difference between the two methods on the McNemar–Bowker test ( P > 0.05). Twenty-one BMPR2 mutation carriers and 99 non-carriers were detected by Sanger sequencing. Among the 21 BMPR2 carriers detected by Sanger sequencing, one variant (c.1040 T > A) was not found by WES. Among the 99 BMPR2 non-carriers, WES detected an extra mutation carrier (c.76 + 1 G > C) missed by Sanger sequencing. Both false-positive and false-negative results were highly conserved and were re-analyzed by Sanger sequencing. WES improved the accuracy of Sanger sequencing and detected 1% (1/99) false-positive and 4.8% (1/21) false-negative results of Sanger sequencing. No false-positive and false-negative results of WES were identified in our analysis. WES is non-inferior to Sanger sequencing and may play a more important role in genetic testing of PAH patients in the future.

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Hintzsche, Jennifer D., William A. Robinson e Aik Choon Tan. "A Survey of Computational Tools to Analyze and Interpret Whole Exome Sequencing Data". International Journal of Genomics 2016 (2016): 1–16. http://dx.doi.org/10.1155/2016/7983236.

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Whole Exome Sequencing (WES) is the application of the next-generation technology to determine the variations in the exome and is becoming a standard approach in studying genetic variants in diseases. Understanding the exomes of individuals at single base resolution allows the identification of actionable mutations for disease treatment and management. WES technologies have shifted the bottleneck in experimental data production to computationally intensive informatics-based data analysis. Novel computational tools and methods have been developed to analyze and interpret WES data. Here, we review some of the current tools that are being used to analyze WES data. These tools range from the alignment of raw sequencing reads all the way to linking variants to actionable therapeutics. Strengths and weaknesses of each tool are discussed for the purpose of helping researchers make more informative decisions on selecting the best tools to analyze their WES data.

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Fennessy, Paul, e Marianne Griffin. "OP64 Implementation Of Whole Exome Sequencing For Rare Diseases". International Journal of Technology Assessment in Health Care 35, S1 (2019): 16. http://dx.doi.org/10.1017/s0266462319001259.

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IntroductionThe Victorian Department of Health and Human Services provided AUD 25 million (i.e. USD 17.3 million) over four years to determine the place of whole exome sequencing (WES) for patients attending public genetics clinics. Comparative analysis of WES and ‘usual care’ determined that WES increased diagnosis rate (from 14 to 58 percent), changed clinical management in one third of patients and identified relatives and couples at high risk of recurrence in future pregnancies. Translating this into routine care requires co-design with clinical and laboratory stakeholders.MethodsVictoria's clinical and laboratory genetics service system uses a ‘hub and spoke’ model. Representatives from these were invited to join a ‘Clinical Adoption Group’ (CAG) to oversight implementation of new government funding (AUD 2 million (i.e. USD 1.4 million) per year) to ensure statewide access to, and funding of, WES for children with rare undiagnosed genetic conditions. The CAG developed terms of reference, ‘traffic light’ evidence-based eligibility criteria, a pricing model and reporting mechanism, and recommended funding for sequencing, curation, curator training and multidisciplinary team (MDT) meetings to support implementation.ResultsFunding was distributed across hub and spoke sites reflecting clinical and laboratory demand and workforce requirements. All cases demonstrated clinical utility and were reviewed at MDT meetings. To date, 37 percent of patients have received a diagnosis changing management, with equity of access between metropolitan and regional areas demonstrated. Eligibility criteria are reviewed as new evidence is published to ensure new evidence is incorporated, although curation capacity limits turn-around-times.ConclusionsCo-designing a statewide and evidence-based clinical model has resulted in sector (i.e. clinician and laboratory) buy-in and supported broad access to funded WES. In addition, the sector has developed a better understanding of how evidence informs policy and funding decisions, which has resulted in delivering equitable WES that provides early diagnosis leading to changed clinical management and cessation of unnecessary interventions.

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Zhang, Rong, Holger Thiele, Peter Bartmann, Alina C. Hilger, Christoph Berg, Ulrike Herberg, Dietrich Klingmüller, Peter Nürnberg, Michael Ludwig e Heiko Reutter. "Whole-Exome Sequencing in Nine Monozygotic Discordant Twins". Twin Research and Human Genetics 19, n. 1 (18 dicembre 2015): 60–65. http://dx.doi.org/10.1017/thg.2015.93.

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By definition, monozygotic (MZ) twins carry an identical set of genetic information. The observation of early post-twinning mutational events was shown to cause phenotypic discordance among MZ twin pairs. These mutational events comprise genomic alterations at different scales, ranging from single nucleotide changes to larger copy-number variations (CNVs) of varying sizes, as well as epigenetic changes. Here, we performed whole-exome sequencing (WES) in nine discordant MZ twins to identify somatic mutational events in the affected twin that might exert a dominant negative effect. Five of these MZ twin pairs were discordant for congenital heart defects (CHD), two for endocrine disorders, one for omphalocele, and one for congenital diaphragmatic hernia (CDH). Analysis of WES data from all nine MZ twin pairs using the de novo probability tool DeNovoGear detected only one apparent de novo variation in TMPRSS13 in one of the CHD-affected twins. Analysis of WES data from all nine MZ twin pairs by using standard filter criteria without the de novo probability tool DeNovoGear revealed a total of 6,657 variations in which both the twin pairs differed. After filtering for variations only present in the affected twins and absent in in-house controls, 722 variations remained. Visual inspection for read quality decreased this number to 12, present only in the affected twin. However, Sanger sequencing of the overall 13 variations failed to confirm the variation in the affected twin. These results suggest that somatic mutational events in coding regions do not seem to play a major role in the phenotypic expression of MZ discordant twin pairs.

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Pastore, Matthew, Rachel Schrader, Emily Sites, Dennis Bartholomew, Chang-Yong Tsao, Kevin Flanigan e Megan Waldrop. "Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic". Neuropediatrics 50, n. 02 (21 gennaio 2019): 096–102. http://dx.doi.org/10.1055/s-0039-1677734.

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AbstractNext-generation sequencing is a powerful diagnostic tool, yet it has proven inadequate to establish a diagnosis in all cases of congenital hypotonia or childhood onset weakness. We sought to describe the impact of whole exome sequencing (WES), which has only recently become widely available clinically, on molecular diagnosis in the Nationwide Children's Hospital Neuromuscular clinics. We reviewed records of all patients in our clinic with pediatric onset of symptoms who had WES done since 2013. Patients were included if clinical suspicion was high for a neuromuscular disease. Clinical WES was performed in 30 families, representing 31 patients, all of whom were seen for hypotonia, weakness, or gait disturbance. Probands had between 2 and 12 genetic diagnostic tests prior to obtaining WES. A genetic diagnosis was established in 11 families (37%), and in 12 patients (39%), with mutations in 10 different genes. Five of these genes have only been associated with disease since 2013, and were not previously represented on clinically available disease gene panels. Our results confirm the utility of WES in the clinical setting, particularly for genetically heterogeneous syndromes. The availability of WES can provide an end to the diagnostic odyssey for parents and allow for expansion of phenotypes.

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Rahmani, E. S., Н. Azarpara, M. Karimipoor e Н. Rahimi. "Whole exome analysis of primary immunodeficiency". Vavilov Journal of Genetics and Breeding 22, n. 5 (10 agosto 2018): 620–26. http://dx.doi.org/10.18699/vj18.403.

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The human primary immunodeficiency diseases (PIDs) refer to a rare heterogeneous group of single-gene inherited disorders causing malfunctions in the immune system, and thus the affected patients have a predisposition to severe life-threatening infections. The heterogeneous nature of PIDs, which involves at list 300 different genes, makes diagnosis of the disease a complex issue. Although studies revealed that six million people have a kind of PID, but due to a complex diagnosis procedure many affected individuals have not gotten a correct diagnosis. However, thanks to advancing in the DNA sequencing method and availability of sophisticated sequencers molecular characterization of genetic disorders have been revolutionized. The whole exome sequencing (WES) method can help clinicians detect Mendelian disease and other complex genetic disorders. The presented study used WES to investigate two infants with symptoms of primary immunodeficiency including hemophagocytic lymphohistiocytosis (HLH) and severe combined immunodeficiency (SCID). It has been shown that the HLH patient had a mutation in the UNC13D gene (NM_199242.2:c.627delT), and the SCID patient had a mutation in the RAG1 gene (NM_000448.2:c.322C>G). It has been demonstrated that WES is a fast and cost-effective method facilitating genetic diagnosis in PID sufferers.

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Ouchi, K., S. Takahashi, K. Tatsuno, A. Hayashi, S. Yamamoto, H. Ueda, M. Inoue, H. Nakano, H. Aburatani e C. Ishioka. "Whole-Exome Sequencing (WES) Using Formalin-Fixed Paraffin Embedded (FFPE) Tissue". Annals of Oncology 24 (novembre 2013): ix93. http://dx.doi.org/10.1093/annonc/mdt460.132.

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Lopez, S., C. Han, G. Altwerger, G. Menderes, L. Zammataro, S. Bellone, A. Bianchi et al. "Whole exome sequencing (WES) reveals novel therapeutic targets in cervical cancer". Gynecologic Oncology 154 (giugno 2019): 61–62. http://dx.doi.org/10.1016/j.ygyno.2019.04.146.

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Più fonti

Tesi sul tema "Whole exome sequencing (WES)"

Tran, Grace. "Parents’ Perspectives: Child’s Whole Exome Sequencing (WES) Research Results of Uncertain Significance". University of Cincinnati / OhioLINK, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1397234121.

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Kause-Zriouil, Franziska [Verfasser]. "Systematische Identifizierung von Krankheitsgenen für intestinale und urogenitale Fehlbildungen mittels „Whole Exome Sequencing“ (WES) / Franziska Kause-Zriouil". Bonn : Universitäts- und Landesbibliothek Bonn, 2021. http://d-nb.info/1239729774/34.

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PELUSI, SERENA. "IMPACT OF WHOLE EXOME SEQUENCING (WES) ON THE CLINICAL MANAGEMENT OF PATIENTS WITH ADVANCED NONALCOHOLIC FATTY LIVER (NAFL)". Doctoral thesis, Università degli Studi di Milano, 2021. http://hdl.handle.net/2434/827810.

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Abstract Non-alcoholic fatty liver disease (NAFLD) is a potentially progressive disorder, possibily leading to cirrhosis and hepatocellular carcinoma (HCC). Both acquired and genetic risk factors play an important role in disease progression. In this respect, the presence of metabolic comorbidities such as obesity and type two diabetes mellitus has been associated to a more severe phenotype, while genetic factors modulating hepatic lipid metabolism such as the variants in PNPLA3 (patatin-like phospholipase domain-containing protein 3), TM6SF2 (transmembrane 6 superfamily member 2), MBOAT7 (membrane bound O-acyltranferase domain containing 7), GCKR (glucokinase regulatory protein) and APOB (apolipoprotein B) have been demostrated to influence disease predisposition. Secondly, a consistent fraction of patients with liver disorders are diagnosed at advanced stage and in approximately one third of cases it is not possible to establish an etiological diagnosis (cryptogenic cirrhosis). By exploiting Whole Exome Sequencing (WES) technology, in this work we aimed to: 1) identify the prevalence of known pathogenic mutations in candidate genes mutated in genetic liver diseases and hereditary cancer syndromes in patients with HCC and cirrhosis due to NAFLD or cryptogenic disease, to compare it to that of healthy individuals and to evaluate in the aforementioned genes the burden of rare or novel mutations of unknown significance, that determine an alteration of protein sequence, and are therefore likely pathogenic; 2) test the functional and clinical significance of the mutations identified, by bioinformatics algorithms and in vitro assays; 3) identify novel genetic risk factors predisposing to progressive NAFLD; 4) implement a genetic risk score (GRS) aiming to improve the stratification of the risk of progressive NAFLD; 5) test the impact of WES on the clinical management of six patients with cryptogenic liver disease. Briefly, we detected an enrichment in pathogenic (p = 0.024), and likely pathogenic variants (p = 1.9*10−6), particularly in APOB (p = 0.047). APOB variants were associated with lower circulating triglycerides and higher HDL cholesterol (p < 0.01). A genetic risk score predicted NAFLD-HCC (OR 4.96, 3.29–7.55; p = 5.1*10−16), outperforming the diagnostic accuracy of common genetic risk variants, and of clinical risk factors (p < 0.05). Furthermore, in one third of the six patients with cryptogenic liver disease and aggressive phenotype it was possible to identify a probable genetic disorder expleining the phenotype. In conclusion, rare pathogenic variants in genes involved in liver disease and cancer predisposition are associated with NAFLD-HCC development. Genetic study by WES can represent a precious instrument for risk stratification and allow a Precision Medicine approach in the context of liver disease aimed at the targeted treatment of the underlying cause of the disease.

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Mastantuono, Elisa [Verfasser], Thomas [Akademischer Betreuer] Meitinger, Heribert [Gutachter] Schunkert e Karl-Ludwig [Gutachter] Laugwitz. "Whole exome sequencing (WES) to elucidate the molecular basis of cardiac disease / Elisa Mastantuono ; Gutachter: Heribert Schunkert, Karl-Ludwig Laugwitz ; Betreuer: Thomas Meitinger". München : Universitätsbibliothek der TU München, 2018. http://d-nb.info/1169825559/34.

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Licchetta, Laura <1981&gt. "In-Depth Clinical, Genetic and Neuropsychological Study of Familial and Sporadic Cases with Sleep-Related Hypermotor Epilepsy (SHE): Identification of New Genes by Whole Exome Sequencing (WES)". Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2017. http://amsdottorato.unibo.it/8079/1/tesi%20PhD%20_licchetta.pdf.

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Sleep-related Hypermotor Epilepsy (SHE) is a genetically heterogeneous epilepsy syndrome. Differences in epilepsy phenotype/endophenotype were associated with mutations in specific genes. However, the genes identified so far cumulatively account for 25% of cases. Moreover, systematic neuropsychological investigations on comprehensive SHE cohorts are lacking. This study provides an accurate clinical, genetic and neuropsychological characterization of a large cohort of patients diagnosed with SHE according to reliable diagnostic criteria. A subgroup underwent a preliminary screening, partly performed by dHPLC to exclude mutations in CHRNA4, CHRNB2, CHRNA2. Using a number of genetic strategies, we identified causative mutations in 10.4% of our cases. The mutation frequencies were 2.3% for KCNT1 (CI: 0.3-8.1%), 5.9% for GATOR1-complex genes (CI: 2.0-13.3%), 3.1% for CHRNA4 (CI: 0.6-8.8%) and 1.7% for SCN1A (CI 0-8.9%). WES analysis allowed the identification of a novel epilepsy gene, NPRL2, coding a component of GATOR1, a negative regulator of mTOR pathway. Altogether, mutations in the GATOR1 complex genes DEPDC5 and NPRL2 account for the majority of our cases (6%). Genotype-phenotype correlations confirmed their association with focal cortical dysplasia, higher rates of drug-resistance, aura and seizures in wakefulness, with relevant implications in diagnostic and treatment strategies. Moreover, we confirm that mutations in KCNT1 are implicated in severe forms with intellectual disability and psychiatric disorders. The unexpected detection of CHRNA4 mutations highlighted the low sensitivity of dHPLC assay. The systematic neuropsychological study showed that neurocognitive deficits are not uncommon in SHE. Mutated patients scored significantly lower at WAIS, supporting a crucial role of genetics in cognitive deficit by different biological mechanisms and molecular pathways. About 47% of patients of normal intelligence showed some degree of cognitive dysfunction. The profile of neuropsychological impairment was characterized by significant worse scores in verbal IQ, deficits in memory and in selected executive functions, with preserved shifting abilities and cognitive flexibility.

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Agatea, Lisa. "An integrated proteomic and genomic approach to study FAP patients without APC and MutHY mutations". Doctoral thesis, Università degli studi di Padova, 2016. http://hdl.handle.net/11577/3424509.

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Familial Adenomatous Polyposis (FAP) is one of the most important clinical forms of inherited susceptibility to colorectal cancer, that is characterized by the development of hundreds to thousands of adenomas in the colon and rectum during the second decade of life. FAP is due to a germline mutation in the APC gene or to biallelic variations of MutYH gene. Almost all patients will develop cancer if the disease is not identified and surgically treated at an early stage. The aim of this study was to characterize, by peptidomic and genetic approaches, 4 pa-tients that, although at the colonoscopy showed many polyps, they did not present any mutations of APC and MutYH genes (defined here unresolved FAP). Regarding the peptidomic study, MALDI-TOF analysis was performed on mutated and unresolved FAP patients. These data were compared with the one from adenoma patients, CRC patients and healthy control subjects. The peptide fingerprint of mutated FAP patients was obtained after performing statistical analysis. A subset of 45 ionic species was found differently expressed in the four groups considered, 12 of them peculiar of FAP patients. Four ionic species were found significantly different in the switch between adenoma and malignant carcinoma. In this study, the potentially prognostic peptides identified derive mainly from circulating proteins and some of them are involved in the inflammatory response. In particular, proteins such as Complement C3 and C4 are known to be cleaved by exoproteases that seem pathology-related. In the case of unresolved FAP patients, in order to better define a specific pattern, the data from MALDI-TOF were combined with whole exome sequencing. The peptidomics data clearly mark a substantial difference between mutated and unresolved FAP patients. Indeed, unresolved FAP patients have characteristics similar to the control subjects, adenoma patients, CRC patients but not to mutated FAP patients. To understand the possible molecular pathway involved in the unresolved FAP cases, the whole exome sequencing (WES) was performed. From WES data analysis, 285 genes present in all the four unresolved FAP patients were filtered and selected. Among them, the O-linked glycans pathway of the mucins was the most represented. In conclusion, in this study it was defined for the first time a specific panel of peptides for mutated FAP patients, that could be useful to monitor and predict the pathological evolution of adenocarcinoma malignancy. Furthermore, it was possible to characterize a preliminary genetic variations pattern for unresolved FAP patients, in which mucin genes might represent the key of the molecular pathway involved. However, further study are necessary to relate the identified mucin gene variations to their possible causative role in the polyposis. Future analysis of this pattern will be helpful, indeed, to better understand the interatome (the biological network that in-cludes the whole set of direct and indirect molecular interactions in a cell) of these un-resolved FAP patients.
La poliposi adenomatosa familiare (FAP) è una delle più importanti forme cliniche di cancro colo-rettale ereditario ed è caratterizzata dallo sviluppo di centinaia/migliaia di polipi adenomatosi nel colon e nel retto durante la seconda decade di vita. La FAP è causata da una mutazione germinale del gene APC o da varianti bialleliche del gene MutYH. Quasi tutti i pazienti FAP sviluppano il cancro se la patologia non viene precocemente identificata e trattata chirurgicamente. Lo scopo di questo lavoro è stato caratterizzare 4 pazienti in cui, nonostante l’esame colonscopico presentasse una poliposi conclamata, non risultavano mutazioni nei gene APC e MutYH (in questa tesi definiti pazienti FAP irrisolti) utilizzando un approccio integrato di peptidomica e genomica. Riguardo la peptidomica, il MALDI-TOF è stato utilizzato per studiare il profilo peptidico plasmatico di pazienti FAP mutati ed irrisolti comparando i dati ottenuti con quelli derivanti dallo studio di pazienti con adenoma, cancro colo-rettale e soggetti sani di controllo. Dopo analisi statistica è stato ottenuto il fingerprint peptidico dei pazienti FAP mutati. Sono state ottenute 45 specie ioniche differentemente espresse nei quattro gruppi considerati, 12 delle quali peculiari per i pazienti FAP. L’intensità di segnale di quattro di queste specie ioniche è stata trovata statisticamente alterata nello switch tra adenoma e carcinoma maligno. I peptidi potenzialmente prognostici identificati in questo studio derivano principalmente da proteine circolanti, alcune delle quali implicate nella risposta infiammatoria. In particolare è noto dalla letteratura che proteine del sistema del complemento come C3 e C4 vengono tagliate da esoproteasi che sembrano essere patologia correlate. Riguardo ai pazienti FAP irrisolti, per definirne un pattern specifico, i dati derivanti dall’analisi con il MALDI-TOF sono stati combinati con quelli ottenuti dal sequenzia-mento dell’esoma. I dati di peptidomica hanno chiaramente evidenziato le differenze tra pazienti FAP mutati e FAP irrisolti. Infatti i pazienti FAP irrisolti presentano caratteristiche simili a quelle dei soggetti di controllo, dei pazienti con adenoma e cancro colo rettale ma non a quelle dei pazienti FAP mutati. Allo scopo di capire la via di trasduzione del segnale implicata, è stato quindi eseguito il sequenziamento dell'esoma dei pazienti FAP irrisolti. Da questa analisi sono stati selezionati 285 geni variati in tutti i pazienti e tra questi la via di trasduzione del segnale della O-glicosilazione delle mucine è risultata la più rappresentata. In conclusione, in questo studio è stato definito per la prima volta un set peptidico specifico per i pazienti FAP mutati che potrebbe essere utilizzato per monitorare e predire l’evoluzione patologica della malattia. Inoltre è stato possibile caratterizzare un pattern preliminare per i pazienti FAP irrisolti in cui i geni delle mucine potrebbero rappresentare la chiave della via di trasduzione del segnale implicata. Ulteriori studi saranno necessari per correlare i geni delle mucine con la poliposi e costruire l'interatoma (network biologico definito come l’insieme di tutte le interazioni molecolari dirette e indirette che ci sono all'interno di una cellula e di un organismo) di questi pazienti FAP irrisolti.

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Bhatia, Sugandha. "EMT & MET: Underpinning the phenotypic plasticity and chemoresistance in breast cancer". Thesis, Queensland University of Technology, 2020. https://eprints.qut.edu.au/180913/1/Sugandha_Bhatia_Thesis.pdf.

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This dissertation aims to identify the functional characteristics and genetic factors present within breast cancers that contribute to intratumoural heterogeneity and therapy resistance. The study utilises breast cancer cell line model systems to address epithelial-mesenchymal plasticity (EMP) at the cellular and functional level and underpins its role in cancer biology and chemoresistance. This research also interrogates the EMP programme in single cell-generated clones and through shRNA mediated functional drug screening assay identifies inhibitors that provides significant synergistic drug combinations. A comprehensive review of the drugs that can clinically target EMP was also consolidated.

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Spracklen, Timothy. "Whole-exome sequencing of cases with familial cardiomyopathy". Doctoral thesis, Faculty of Health Sciences, 2021. http://hdl.handle.net/11427/33999.

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Introduction: Cardiomyopathies are disorders of the myocardium that can lead to heart failure, arrhythmias and sudden death. Heritable forms include dilated, hypertrophic and arrhythmogenic cardiomyopathy (DCM, HCM and ACM respectively). As heterogeneous disorders, over 50 genes have been implicated in these cardiomyopathies to date. However, the yield of genetic testing ranges from less than 40% in idiopathic DCM to over 50% in ACM and HCM, indicating that many causal genes are yet to be identified. This is particularly true in African populations, where the genetics of cardiomyopathy is underexplored. In a review of the role of next-generation sequencing in gene discovery, over 20 new cardiomyopathy genes were found to have been identified through exome sequencing of cardiomyopathy patients. The literature review also highlighted the need for functional validation of newly identified disease genes. Therefore, the aims of this investigation were to utilise exome sequencing to identify disease-causing mutations in South African families with heritable cardiomyopathy, and to establish methods of variant validation through functional modelling in zebrafish. Methods: Five probands and 34 relatives were included in this investigation. The probands and their relatives were clinically examined and diagnosed with DCM, HCM or ACM at Groote Schuur Hospital, Cape Town. Exome sequencing was performed on each of the five probands as well as at least one other family member. Variants of interest were identified by filtering the exome sequencing data by allele frequency, variant quality, variant consequence, predicted deleteriousness, and the potential inheritance patterns as determined by family history analysis. Variants occurring in known cardiomyopathy genes were prioritised, but genes outside the cardiac panel were considered based on literature mining, expression in the heart, and results of prior animal models. Candidate variants were validated by Sanger sequencing and assessed using international criteria for pathogenicity. The candidate ACM gene POLG was investigated in zebrafish larvae using two genetic manipulations. Firstly, zebrafish polg was disrupted using CRISPR/Cas9 in single-cell embryos and, at three days post-fertilisation, the phenotypic effects were compared to uninjected control larvae, as well as larvae in which other known cardiomyopathy genes were disrupted. Secondly, human POLG cDNA was cloned, and the c.2942A>G variant introduced using site-directed mutagenesis; this construct was used to generate variant POLG mRNA that was injected into zebrafish embryos. Larvae were phenotypically examined at four days post-fertilisation and compared to three control groups (unmutated POLG-injected, water-injected, and uninjected embryos). Results: In three families, genotype-phenotype correlations were identified that have not yet been reported in South Africa, although this genetic overlap between cardiomyopathies has been described elsewhere. Family 1: the mutation MYH7 c.4394C>T (p.S1465L) was identified in three siblings with DCM. Although MHY7 is typically associated with HCM, mutations in this region have been reported in DCM patients in other populations. Family 2: the mutation GLA c.774_775del (p.R259Rfs*5) was found in a mother and her son, both of whom had been diagnosed with HCM. The finding of a pathogenic truncating GLA mutation in this family resulted in the genetic rediagnosis of those individuals with Fabry disease, an HCM phenocopy. Family 3: in this large DCM family consisting of three affected brothers and their nephew, no pathogenic variants were identified, but two variants of uncertain significance (VUSs) were found in the genes DSC2 and PKP2. Both variants fulfilled some criteria for pathogenicity, but have not been associated with DCM in South African patients before. In Families 4 and 5, no mutations in known cardiomyopathy-causing genes were identified. Family 4: exome sequencing revealed the variant POLG c.2492A>G (p.Y831C) in this ACM family, with a clinical phenotype consisting of arrhythmia and left ventricular fibrosis. This was a VUS, but in vivo modelling using CRISPR/Cas9 in zebrafish larvae demonstrated that disruption of the gene may impair cardiac development, while expression of the c.2492A>G variant in zebrafish larvae resulted in a significant reduction in heart rate, ventricle size and cardiac output. These results indicate that POLG variation may underly the arrythmia observed in the family, while prior mouse models reported that POLG mutations can induce cardiac fibrosis. Family 5: rare, compound heterozygous missense mutations in ITGB5 were identified as the candidate causative variants in this small family with severe paediatric DCM, possibly affecting adhesion of cardiomyocytes to the extracellular membrane. Conclusion: In total, pathogenic or likely pathogenic mutations were identified in two out of five families studied, while three VUSs with moderate or strong pathogenic potential were identified in two other families. The potential role of POLG in human cardiomyopathy and arrhythmic phenotypes is a finding that should be explored further, as should the putative role of ITGB5 in paediatric cardiomyopathy. This study indicates how exome sequencing, combined with in vivo functional analysis, can identify variants that are likely to contribute to disease in human patients. These techniques may prove useful in bridging the gap in cardiomyopathy knowledge in Africa.

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Giri, Harirambapu Dinesh. "Whole exome sequencing in children with rare endocrine disorders". Thesis, University of Liverpool, 2017. http://livrepository.liverpool.ac.uk/3014406/.

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Hartill, Verity Laura. "Congenital heart disease gene identification by whole exome sequencing". Thesis, University of Leeds, 2017. http://etheses.whiterose.ac.uk/18531/.

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Congenital Heart Disease (CHD) is the most common congenital defect, but the genetic aetiology of a large proportion of CHD is unexplained. This project aimed to delineate novel genetic causes of CHD using Whole Exome Sequencing (WES) in a family-based approach. Sixteen families were recruited to the study. WES data analysis followed a standardized pipeline and candidate variants were prioritized on the basis of in silico pathogenicity prediction tools and review of the current literature. Known and candidate genes in CHD were successfully identified using WES. In one family, a mutation in PIGV was identified, providing a diagnosis of Hyperphosphatasia and Mental Retardation syndrome and expanding the known phenotype of this condition. In a family with early-onset cardiomyopathy, a mutation in PPA2 was identified, encoding a mitochondria-specific pyrophosphatase enzyme. Through collaboration this gene was identified to be causative in three further families and mutation pathogenicity was investigated by functional studies. In a further family, a missense mutation in DNAAF1 was associated with heterotaxy, in the absence of clinical features of Primary Ciliary Dyskinesia, the phenotype usually associated with this gene. Zebrafish studies supported the pathogenicity of this variant and functional experiments identified novel interactants of DNAAF1 to include Pontin, Reptin and IFT88. Pontin was found to be expressed on the left side of the embryonic node in mice and zebrafish, a pattern which was abolished in dnaaf1-/- mutant fish, suggesting DNAAF1 and Pontin to be involved in the development of early laterality. In two families with athelia, choanal atresia and CHD a candidate variant in KMT2D was identified. The phenotype was distinct from Kabuki syndrome and is likely to represent a novel KMT2D-related disorder. WES was a successful tool in gene identification in CHD and, coupled with functional studies, has provided novel insights into the pathogenesis of CHD.

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Libri sul tema "Whole exome sequencing (WES)"

Purcell, Shaun M. Genetic Methodologies and Applications. A cura di Dennis S. Charney, Eric J. Nestler, Pamela Sklar e Joseph D. Buxbaum. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190681425.003.0001.

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Mental illness is highly heritable, yet it has been difficult historically to identify the specific genes that comprise that risk. This difficulty resides in the fact that the genetic risk for all common mental disorders is polygenic, with perhaps hundreds of genetic variations, each of small effect, contributing to the overall risk. Despite these challenges, the field has made dramatic advances over the past decade in beginning to understand the genetic basis of mental illness. This chapter provides an overview of the experimental approaches used, beginning with epidemiology and population genetics to define the heritability of an illness, to classic studies of large families and linkage disequilibrium analysis, to genome-wide investigations including genome-wide association studies (GWAS), exome sequencing, and whole genome sequencing. Increasingly, these genetic advances are being understood within the biological context of disease pathophysiology.

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Mammen, Andrew L., e Jessica R. Nance. Evaluation of hyperCKaemia. A cura di Hector Chinoy e Robert Cooper. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198754121.003.0007.

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Serum creatine kinase (CK) levels may be elevated in patients with muscle weakness or pain. In asymptomatic patients with CK elevations, the focus should be on identifying reversible causes, followed by investigation for inherited muscle diseases. In asymptomatic patients with an incidental finding of elevated CK, clinicians should look for reversible causes, then re-test the CK after 10 days of rest in the absence of potential triggers. If the CK remains markedly elevated and/or electromyography proves myopathic, a muscle biopsy should be considered. Women of childbearing age with elevation of serum CK should be evaluated for dystrophin mutation. Genetic causes of hyperCKaemia can be pursued with targeted gene sequencing, or whole exome or next generation sequencing. Patients with inherited skeletal muscle diseases may also have associated cardiac disease, so a cardiology evaluation should be considered in all patients with unexplained CK elevations.

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Kotzer, Katrina E., e Sarah E. Kerr. Molecular Technologies and Test Issues. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190604929.003.0005.

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Molecular genetic testing has been around since the discovery and offering of clinical testing for the first gene sequenced. However, in recent years the methods and scope of molecular genetic testing have evolved significantly to encompass next-generation sequencing, multigene panels, and whole exome and genome testing. With this evolution in molecular methods, the nomenclature and variant evaluation and annotation processes are crucial for the systematic and standard interpretation of molecular test results. This chapter will provide the laboratory genetic counselor with information about the common sample types analyzed by molecular techniques for the purposes of genetic testing and the various methodologies available and their limitations. Guidelines are given for the standard approach to molecular variant reporting with respect to nomenclature and variant classification.

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Ingles, Jodie, Charlotte Burns e Laura Yeates. Genetic counselling. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0145.

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Cardiac genetic counselling is an emerging but important subspecialty. The qualifications of cardiac genetic counsellors depend on the country of practice, but at a minimum they are Master’s-level trained health professionals with expertise in genetics, and are integral members of the multidisciplinary inherited cardiovascular disease clinic. Though the framework is diverse in different countries, key roles include investigation and confirmation of family history details, discussion of inheritance risks and facilitation of cardiac genetic testing, communication with at-risk relatives, and increasingly, curation of genetic test results. The use of next-generation sequencing technologies has seen a recent shift in the uptake of genetic testing, due to greater availability and lowered costs. As these gene tests become more comprehensive, including large panels of genes and even whole exome or whole genome sequencing, the need for cardiac genetic counsellors to provide informed consent, appropriate pre- and post-test genetic counselling, and ongoing curation of the variants identified is evident. Finally, given the improved understanding of the psychological implications of living with a cardiovascular genetic disease, cardiac genetic counsellors are integral in delivering psychosocial care and identifying patients requiring intervention with a clinical psychologist.

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Forsyth, Rob, e Richard Newton. Neurodiagnostic tools. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780198784449.003.0002.

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This chapter explains the principles of how best to use the main diagnostic tools in paediatric neurology in the context of evidence-based medicine. The description of neuroradiology includes the principles of DWI, SWI, MRS, ASL and fMRI, and the usefulness of ultrasound, CT and PET scanning; neuroradiological anatomy, terminology, common incidental findings and normal myelination patterns. An approach to white matter and developmental brain abnormalities is depicted. Neurogenetic testing discusses the capabilities and limitations of microarray for Comparative Genomic Hybridization (copy-number variants), gene panel testing, and whole exome and whole genome next generation sequencing. The chapter offers the theory, practicality and pitfalls of electroencephalography, peripheral neurophysiology and evoked potential testing. Common practical procedures are described, including lumbar puncture, muscle biopsy and shunt tapping with an understanding of the place of special investigations on CSF, blood, urine, and skin. The scope of neuropsychological testing is described.

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Capitoli di libri sul tema "Whole exome sequencing (WES)"

Mahajan, Milind C., e Andrew S. McLellan. "Whole-Exome Sequencing (WES) for Illumina Short Read Sequencers Using Solution-Based Capture". In Methods in Molecular Biology, 85–108. New York, NY: Springer New York, 2019. http://dx.doi.org/10.1007/978-1-4939-9882-1_5.

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Ulintz, Peter J., Weisheng Wu e Chris M. Gates. "Bioinformatics Analysis of Whole Exome Sequencing Data". In Methods in Molecular Biology, 277–318. New York, NY: Springer New York, 2018. http://dx.doi.org/10.1007/978-1-4939-8876-1_21.

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Spinelli, Roberta, Rocco Piazza, Alessandra Pirola, Simona Valletta, Roberta Rostagno, Angela Mogavero, Manuela Marega, Hima Raman e Carlo Gambacorti-Passerini. "Whole-Exome Sequencing Data – Identifying Somatic Mutations". In Springer Handbook of Bio-/Neuroinformatics, 419–27. Berlin, Heidelberg: Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/978-3-642-30574-0_25.

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Vilimas, Tomas. "Measuring Tumor Mutational Burden Using Whole-Exome Sequencing". In Biomarkers for Immunotherapy of Cancer, 63–91. New York, NY: Springer New York, 2019. http://dx.doi.org/10.1007/978-1-4939-9773-2_3.

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Liang, Winnie S., Kristi Stephenson, Jonathan Adkins, Austin Christofferson, Adrienne Helland, Lori Cuyugan e Jonathan J. Keats. "Whole Exome Library Construction for Next Generation Sequencing". In Methods in Molecular Biology, 163–74. New York, NY: Springer New York, 2018. http://dx.doi.org/10.1007/978-1-4939-7471-9_9.

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Gaulton, Kyle, Jason Flannick e Christian Fuchsberger. "Whole Genome and Exome Sequencing of Type 2 Diabetes". In Frontiers in Diabetes, 29–41. Basel: S. KARGER AG, 2014. http://dx.doi.org/10.1159/000362465.

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van den Akker, Erik B., Joris Deelen, P. Eline Slagboom e Marian Beekman. "Exome and Whole Genome Sequencing in Aging and Longevity". In Longevity Genes, 127–39. New York, NY: Springer New York, 2015. http://dx.doi.org/10.1007/978-1-4939-2404-2_6.

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De Braekeleer, Marc, Etienne De Braekeleer e Nathalie Douet-Guilbert. "Whole-Genome/Exome Sequencing in Acute Leukemia: From Research to Clinics". In Next Generation Sequencing in Cancer Research, Volume 2, 381–400. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-15811-2_22.

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Felice, Vanessa, Avinash Abhyankar e Vaidehi Jobanputra. "Prenatal Diagnosis by Whole Exome Sequencing in Fetuses with Ultrasound Abnormalities". In Prenatal Diagnosis, 267–85. New York, NY: Springer New York, 2018. http://dx.doi.org/10.1007/978-1-4939-8889-1_18.

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Semple, Robert, e Inês Barroso. "Whole-Exome Sequencing of Patients with Severe Disorders of Insulin Action". In Frontiers in Diabetes, 87–101. Basel: S. KARGER AG, 2014. http://dx.doi.org/10.1159/000362469.

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Atti di convegni sul tema "Whole exome sequencing (WES)"

Zhang, Qian, Hui Huang e Zuojun Xu. "Whole exome sequencing (WES) of a Chinese Han family with familial pulmonary sarcoidosis". In ERS International Congress 2020 abstracts. European Respiratory Society, 2020. http://dx.doi.org/10.1183/13993003.congress-2020.1073.

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Lezhnin, Sergey. "Abstract 5062: Integrated analysis of the whole exome sequencing (WES) identifies novel mutations and suggests patient selection hypothesis". In Proceedings: AACR 103rd Annual Meeting 2012‐‐ Mar 31‐Apr 4, 2012; Chicago, IL. American Association for Cancer Research, 2012. http://dx.doi.org/10.1158/1538-7445.am2012-5062.

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Cristescu, Razvan, Deepti Aurora-Garg, Andrew Albright, Lei Xu, Xiao Qiao Liu, Andrey Loboda, Lixin Lang, Fan Jin, Alexandra Snyder e Jared Lunceford. "Abstract LB-261: Association between tumor mutational burden (TMB) assessed by whole-exome sequencing (WES) and outcomes of pembrolizumab (pembro) monotherapy". In Proceedings: AACR Annual Meeting 2020; April 27-28, 2020 and June 22-24, 2020; Philadelphia, PA. American Association for Cancer Research, 2020. http://dx.doi.org/10.1158/1538-7445.am2020-lb-261.

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Borad, Mitesh J., Jan Egan, Mia Champion, Katherine Hunt, Robert McWilliams, Ann McCullough, Jessica Aldrich et al. "Abstract CT112: Implementation of CLIA enabled integrated whole genome (WGS)/exome (WES)/transcriptome (RNAseq) next-gen sequencing to identify therapeutically relevant targets in advanced cancer patients". In Proceedings: AACR 106th Annual Meeting 2015; April 18-22, 2015; Philadelphia, PA. American Association for Cancer Research, 2015. http://dx.doi.org/10.1158/1538-7445.am2015-ct112.

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Wagle, Nikhil, Nancy U. Lin, Andrea L. Richardson, Ignaty Leshchiner, Ingrid A. Mayer, Andres Forero-Torres, Timothy J. Hobday et al. "Abstract PD3-5: Whole exome sequencing (WES) of HER2+ metastatic breast cancer (MBC) from patients with or without prior trastuzumab (T): A correlative analysis of TBCRC003". In Thirty-Seventh Annual CTRC-AACR San Antonio Breast Cancer Symposium; December 9-13, 2014; San Antonio, TX. American Association for Cancer Research, 2015. http://dx.doi.org/10.1158/1538-7445.sabcs14-pd3-5.

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Borad, Mitesh. "Abstract C66: Pilot study of CLIA enabled integrated whole genome (WGS)/exome (WES)/transcriptome (RNAseq) next-gen sequencing to identify therapeutically relevant targets in advanced cancer patients." In Abstracts: AACR-NCI-EORTC International Conference: Molecular Targets and Cancer Therapeutics--Oct 19-23, 2013; Boston, MA. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/1535-7163.targ-13-c66.

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Cohen, O., J. Buendia-Buendia, S. Wander, U. Nayar, P. Mao, A. Waks, D. Kim et al. "Abstract PD9-02: Evolutionary analysis of 462 serial metastatic biopsies from 208 patients with estrogen receptor-positive (ER+) metastatic breast cancer (MBC) using whole exome sequencing (WES)". In Abstracts: 2018 San Antonio Breast Cancer Symposium; December 4-8, 2018; San Antonio, Texas. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.sabcs18-pd9-02.

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Pignon, Jean-Christophe, Heidi Giese, Dorothee Foernzler, Lee D. McDaniel, Gabor Bartha, Juergen Scheuenpflug e Zheng Feng. "Abstract 363: Investigating the potential clinical predictive value of virus genotype, menopausal status and mutational landscape in cervical cancer tissue using a NGS based human papillomavirus (HPV) assay and whole exome sequencing (WES)". In Proceedings: AACR Annual Meeting 2021; April 10-15, 2021 and May 17-21, 2021; Philadelphia, PA. American Association for Cancer Research, 2021. http://dx.doi.org/10.1158/1538-7445.am2021-363.

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Braga, Vinícius Lopes, Wladimir Bocca Vieira de Rezende Pinto, Bruno de Mattos Lombardi Badia, José Marcos Vieira de Albuquerque Filho, Igor Braga Farias, Paulo Victor Sgobbi de Souza e Acary Souza Bulle Oliveira. "Spastic paraplegia type 73: expanding phenotype of the first two Brazilian families". In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.552.

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Context: Hereditary spastic paraplegias (HSPs) represent an expanding group of neurodegenerative diseases characterized mainly by progressive spastic paraparesis of the lower limbs. More than 80 different genetic loci have been associated with HSPs. In 2015, heterozygous pathogenic variants in the CPT1C gene were first associated with SPG73, not yet described in Brazilian patients. Objective: We present clinical, neuroimaging and genetic features of three Brazilian patients with SPG73. Cases reports: We report one male and two female patients, age range 36 to 78 years old. Case 1 presented with a 4-year-history of spasticity, predominantly crural tetraplegia, bladder incontinence, dysphagia and dysphonia. Family history disclosed a sister with epilepsy. Whole-exome sequencing (WES) disclosed a heterozygosis variant c.863G>A (p.Arg288His) in exon 9 of the CPT1C. Cases 2 and 3 are first degree relatives (mother and son). Both presented with long-standing slowly progressive spastic paraplegia. Case 3 presented bladder incontinence, constipation, dysphagia and dysphonia at late stages. Cases 2 and 3 WES disclosed the heterozygosis variant c.196T>G (p.Phe66Val) in exon 4 of the CPT1C. Discussion: Previous literature described six patients from an Italian family with pure HSPs phenotype and the pathogenic variant c.109C>G (p.Arg3. 7Cys) in CPT1C gene. Another group described three patients associated with pure HSPs phenotype and the pathogenic variant (c.226C>T) in the CPT1C gene. All previous reported cases had benign clinical course and bulbar involvement was not described before. One of our cases presented with a de novo variant and rapidly progressive motor and bulbar compromise. Conclusion: our cases expand the current knowledge about SPG73, including a rapidly progressive phenotype with bulbar involvement and cognitive compromise at late stages of disease course.

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Pinto, Icaro França Navarro, Wladimir Bocca Vieira de Rezende Pinto, Igor Braga Farias, Bruno de Mattos Lombardi Badia, Gustavo Carvalho Costa, Carolina Maria Marin, Ana Carolina Souza Jorge et al. "Oculogyric Crisis in a patient with PURA Syndrome". In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.121.

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Context: PURA syndrome is a neurodevelopmental disorder characterized by neonatal hypotonia, delayed psychomotor development, early-onset feeding difficulties and an epileptic encephalopathy. Case Report: A 3-month-old Brazilian boy presented with severe neonatal hypotonia associated with feeding difficulties due to serious dysphagia requiring nasoenteral tube feeding. Excessive drowsiness, poor social interaction and repetitive episodes of involuntary abnormal upward eye movements and ocular version with short duration were also reported by parents. Neurological examination revealed severe axial and upper limb hypotonia, orofacial dyskinetic movements and episodes of abnormal eye movements with upward ocular deviation with less than 30 seconds in duration compatible with oculogyric crisis. It was performed Whole-Exome sequencing and it was identified a new pathogenic variant in PURA gene that establisehd the final diagnosis of PURA Syndrome or Autosomal Dominant Mental Retardation type 31, MDR 31 (OMIM #616158). Conclusions: PURA Syndrome emerges as one of the major differential diagnoses of neonatal hypotonia and in addition, we can consider the early manifestation of oculogyric crisis as a phenotypic expansion of the syndrome, making its diagnosis even more challenging, since epileptic encephalopathies and neurotransmitter deficiency-related diseases present with a similar clinical course.

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