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Journal articles on the topic 'Hearing Loss,illumina,Agilent'

Author: Grafiati

Published: 11 March 2023

Last updated: 31 July 2025

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1

Liu, Xiao-Wen, Su-Yang Wang, Zhan-Kui Xing, et al. "Targeted next-generation sequencing identified a novel variant of SOX10 in a Chinese family with Waardenburg syndrome type 2." Journal of International Medical Research 48, no. 11 (2020): 030006052096754. http://dx.doi.org/10.1177/0300060520967540.

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Objective Waardenburg syndrome type 2 (WS2) is an autosomal dominant syndrome, characterized by bright blue eyes, hearing loss, and depigmented patches of hair and skin. It exhibits high phenotypic and genetic heterogeneity. We explored the molecular etiology in a Chinese family with WS2. Methods We recruited a three-generation family with three affected members. Medical history was obtained from all family members who underwent detailed physical examinations and audiology tests. Genomic DNA was extracted from peripheral blood of each individual, and 139 candidate genes associated with hearing

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Madison, Farrah N., Matthew A. Conte, Jane A. Brown, Karen L. Carleton, and Robert J. Dooling. "Whole genome sequencing identifies genetic candidates for high-frequency hearing loss in canaries (serinus canaria)." Journal of the Acoustical Society of America 157, no. 4 (2025): 2330–35. https://doi.org/10.1121/10.0036218.

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Over hundreds of years, breeders have selectively bred different strains of canaries for plumage and song characteristics. One strain, the Belgian Waterslager canary, has been bred for loud, low frequency song and coincidently has been found to have a high-frequency hearing loss due to damaged and missing hair cells in the basilar papilla. Here, we investigated the possible genetic basis for this hearing loss in the Belgian Waterslager canary by conducting whole-genome Illumina (San Diego, CA) sequencing in three canary strains. We identified a total of 16 Belgian Waterslager male-specific “hi

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Gunnarsson, Rebeqa, Johan Staaf, Mattias Jansson, et al. "Screening for Copy Number Alterations and Loss of Heterozygosity in Chronic Lymphocytic Leukemia - A Comparative Study of Four Differently Designed, High Resolution Microarray Platforms." Blood 110, no. 11 (2007): 2084. http://dx.doi.org/10.1182/blood.v110.11.2084.2084.

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Abstract Screening for copy number alterations (CNA) has improved by applying genome wide microarrays, where SNP-arrays also allow analysis of loss of heterozygosity (LOH). Currently, comparisons of high resolution microarray platforms are few, thus we performed a study to evaluate the power of differently designed microarrays for copy number analysis and LOH. We here analyzed 10 diagnostic chronic lymphocytic leukemia (CLL) samples (five IGVH mutated and five IGVH unmutated) using four different high-resolution platforms: BAC-arrays (32K), oligonucleotide-arrays (185K, Agilent), and two SNP-a

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Hosono, Katsuhiro, Yuko Harada, Kentaro Kurata, et al. "NovelGUCY2DGene Mutations in Japanese Male Twins with Leber Congenital Amaurosis." Journal of Ophthalmology 2015 (2015): 1–10. http://dx.doi.org/10.1155/2015/693468.

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Purpose. Leber congenital amaurosis (LCA), a genetically and clinically heterogeneous disease, is the earliest onset retinitis pigmentosa (RP) and is the most severe of hereditary retinal dystrophies. This study was conducted to investigate genetic and clinical features of LCA in a set of Japanese male twins with LCA.Methods. To identify causative mutations, 74 genes known to cause RP or LCA were examined by targeted-next generation sequencing (NGS). Targeted-NGS was performed using a custom designed Agilent HaloPlex target enrichment kit with Illumina Miseq sequencer. Identified potential pat

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Hagleitner, Melanie M., Marieke J. H. Coenen, Hans Gelderblom, Peter Hoogerbrugge, Henk-jan Guchelaar, and Dunja Maroeslea W. M. Te Loo. "Association of the genetic variants in the nucleotide excision repair genes XPA and XPC with cisplatin-induced hearing loss in patients with osteosarcoma." Journal of Clinical Oncology 30, no. 15_suppl (2012): 10077. http://dx.doi.org/10.1200/jco.2012.30.15_suppl.10077.

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10077 Background: Cisplatin is a widely used and effective chemotherapeutic agent in the treatment of osteosarcoma. However, cisplatin-induced ototoxicity is a serious problem, affecting more than 60% of patients and compromising language and cognitive development. Unfortunately, individuals at risk to develop ototoxicity cannot be identified upfront. Genetic variants in genes involved in the metabolism of cisplatin may predispose to cisplatin-induced hearing loss and help to identify patients at risk. Methods: In a candidate gene pathway approach, we selected 224 SNPs in 30 candidate genes re

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Riza, Anca-Lelia, Camelia Alkhzouz, Marius Farcaș, et al. "Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene." Genes 14, no. 1 (2022): 69. http://dx.doi.org/10.3390/genes14010069.

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The genetic causes of autosomal recessive nonsyndromic hearing loss (ARNSHL) are heterogeneous and highly ethnic-specific. We describe GJB2 (connexin 26) variants and carrier frequencies as part of our study and summarize previously reported ones for the Romanian population. In total, 284 unrelated children with bilateral congenital NSHL were enrolled between 2009 and 2018 in northwestern Romania. A tiered diagnostic approach was used: all subjects were tested for c.35delG, c.71G>A and deletions in GJB6 (connexin 30) using PCR-based methods. Furthermore, 124 cases undiagnosed at this stage

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Armstrong, Andrew J., Jing Li, Joshua Beaver, Rhonda Lynn Bitting, and Simon Gregory. "Genomic analysis of circulating tumor cells (CTCs) from men with metastatic castration resistant prostate cancer (mCRPC) in the context of enzalutamide therapy." Journal of Clinical Oncology 32, no. 4_suppl (2014): 65. http://dx.doi.org/10.1200/jco.2014.32.4_suppl.65.

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65 Background: Given the evolving treatments available in metastatic castration resistant prostate cancer (mCRPC), predictive biomarkers are desirable that maximize benefit and minimize harms and costs.The goal of this study was to determine the feasibility of DNA copy number and whole exome sequencing (WES) analysis of circulating tumor cells (CTCs) from men with mCRPC receiving enzalutamide. Methods: We collected CTCs from men with mCRPC in the context of enzalutamide therapy. CTCs were isolated from EDTA blood through red cell lysis, CD45 depletion, and flow sorting on EpCAM/CD45 expression

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O’Halloran, Katrina, Moiz Bootwalla, Daria Merkurjev, et al. "RARE-57. PEDIATRIC CHORDOMA: WHOLE EXOME SEQUENCING OF 11 PEDIATRIC CHORDOMA SAMPLES." Neuro-Oncology 22, Supplement_3 (2020): iii454. http://dx.doi.org/10.1093/neuonc/noaa222.767.

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Abstract Chordoma is a rare tumor and while SMARCB1 alterations have been observed in poorly differentiated chordomas, conventional chordomas are not well understood. We interrogated nuclear and mitochondrial genomes of 11 chordoma samples from 7 children. Frozen tumor tissue DNA was extracted and whole exome libraries generated using Agilent SureSelect Human All Exon V6 kit plus mtDNA genome capture kit. Libraries were sequenced using Illumina Nextseq 500. MuTect2, VarDict and LUBA variant callers were used with allele frequency cutoff 2%. Potential germline variants were filtered bioinformat

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Li, Qian, Yuxiao Zou, and Sentai Liao. "Mulberry Leaf Polyphenols and Fiber Induce Synergistic Antiobesity and Display a Modulation Effect on Gut Microbiota and Metabolites." Current Developments in Nutrition 4, Supplement_2 (2020): 1654. http://dx.doi.org/10.1093/cdn/nzaa063_052.

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Abstract Objectives In this study we compared the antiobesity effects of mulberry leaf powder, dietary fiber, polyphenols, and a fiber/polyphenols mixture.Combining intestinal community modulation and metabolite analysis, we investigated the antiobesity effects and mechanisms of mulberry leaf components, detecting the interaction between mulberry leaf dietary fiber and polyphenol. Methods An obesity model was established by feeding rats with a high-calorie diet. Rats were divided into seven groups: the obesity model control (MC), positive control (PC), mulberry leaf powder (MLP), mulberry leaf

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Toomey, Sinead, Aoife Carr, Jillian Rebecca Gunther, et al. "Clonal evolution in locally advanced rectal cancers in response to neoadjuvant chemoradiotherapy." Journal of Clinical Oncology 35, no. 15_suppl (2017): 3616. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.3616.

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3616 Background: Locally advanced rectal cancer, LARC (T3/4 and/or N+) is currently treated with neoadjuvant chemoradiotherapy (NACRT), however clinicopathological response is variable. Monitoring clonal evolution in response to NACRT may identify mutations driving therapeutic resistance or tumor growth after treatment. Methods: Fresh-frozen pre- and post-NACRT tumor and matched normal tissue from LARC patients were stratified into good (RCPath A), intermediate (RCPath B) and poor (RCPath C) responders. Following histological review, targeted exome capture was performed using an Agilent SureSe

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Grzybowska-Adamowicz, Julia, Karolina Gadzalska, Paulina Jakiel, et al. "Patients with a Wide Range of Disorders Related to WFS1 Gene Variants: Novel Mutations and Genotype–Phenotype Correlations." Genes 15, no. 12 (2024): 1592. https://doi.org/10.3390/genes15121592.

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Background: WFS1-spectrum disorders are caused by a mutation in the WFS1 gene. The term includes a wide range of rare disorders, from the most severe Wolfram syndrome with autosomal recessive inheritance to milder clinical manifestations with a single causative variant in the WFS1 gene, such as Wolfram-like syndrome, low-frequency sensorineural hearing loss (LFSNHL), isolated diabetes mellitus (DM), nonsyndromic optic atrophy (OA), and isolated congenital cataracts. Methods: The aim of this study was to evaluate genotype–phenotype correlations in Polish patients with WFS1-spectrum disorders. T

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Bommakanti, Krishna, Richard Seist, Phanidhar Kukutla, et al. "Comparative Transcriptomic Analysis of Archival Human Vestibular Schwannoma Tissue from Patients with and without Tinnitus." Journal of Clinical Medicine 12, no. 7 (2023): 2642. http://dx.doi.org/10.3390/jcm12072642.

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Vestibular schwannoma (VS) is an intracranial tumor that commonly presents with tinnitus and hearing loss. To uncover the molecular mechanisms underlying VS-associated tinnitus, we applied next-generation sequencing (Illumina HiSeq) to formalin-fixed paraffin-embedded archival VS samples from nine patients with tinnitus (VS-Tin) and seven patients without tinnitus (VS-NoTin). Bioinformatic analysis was used to detect differentially expressed genes (DEG; i.e., ≥two-fold change [FC]) while correcting for multiple comparisons. Using RNA-seq analysis, VS-Tin had significantly lower expression of G

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Teule, Alex, Francisco Quiles, Rafael Valdes-Mas, et al. "Searching for new genes responsible for unexplained hereditary breast and ovarian cancer patients." Journal of Clinical Oncology 31, no. 15_suppl (2013): e12516-e12516. http://dx.doi.org/10.1200/jco.2013.31.15_suppl.e12516.

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e12516 Background: About 10-20% of breast and ovarian cancer patients show family history of the disease. Germline mutations in the BRCA1 and BRCA2 genes are usually found in 20-25% of these cases, while the remaining ones are commonly known as BRCAX. Next generation sequencing (NGS) studies have the promise to expedite the identification of the genetic basis underlying BRCAX cases. Aim: To identify gene mutations associated with BRCAX cases by means of whole exome sequencing. Methods: Five selected BRCAX families with more than three affected individuals across at least three generations, and

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Mikulasova, Aneta, Brian A. Walker, Christopher P. Wardell, et al. "Somatic Mutation Spectrum in Monoclonal Gammopathy of Undetermined Significance Compared to Multiple Myeloma." Blood 124, no. 21 (2014): 3346. http://dx.doi.org/10.1182/blood.v124.21.3346.3346.

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Abstract Introduction: Malignant transformation of normal to tumour cells is a multistep process followed by sequential aggregation of hits at different molecular levels. Genetic events including single nucleotide variants (SNVs), insertion-deletion changes (indels) as well as copy number variants (CNVs) affect the phenotype of the tumour population and consequently patient prognosis. Transformation from a symptomless state, monoclonal gammopathy of undetermined significance (MGUS) to multiple myeloma (MM) can be used as a unique model for cancer development studies. To date, there is very lit

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Mahjoubi, Frouzandeh, Samira Shabani, Sogand Khakbazpour, and Aylar Khaligh Akhlaghi. "Novel EPG5 Mutation Associated with Vici Syndrome Gene." Case Reports in Genetics 2022 (July 5, 2022): 1–3. http://dx.doi.org/10.1155/2022/5452944.

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Introduction. Vici syndrome (also known as immunodeficiency with cleft lip/palate, cataract, and hypopigmentation and absent corpus callosum) is considered as a progressive neurodevelopmental multisystem disorder. Till date, only 80 cases, including our patient, with this syndrome have been reported .This syndrome is characterized by agenesis of the corpus callosum, hypopigmentation of the eyes and hair, cataract, cardiomyopathy, combined immunodeficiency, hearing loss, seizures, and additional multisystem involvements which have been reported as case reports in the past. Clinical Manifestatio

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Smits, Willem K., Carlo Vermeulen, Rico Hagelaar, et al. "Elevated Enhancer-Oncogene Contacts and Higher Oncogene Expression Levels By Recurrent CTCF inactivating Mutations in T Cell Acute Lymphoblastic Leukemia." Blood 138, Supplement 1 (2021): 501. http://dx.doi.org/10.1182/blood-2021-152221.

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Abstract Introduction. The CCCTC-binding factor (CTCF) regulates the 3D chromatin architecture by facilitating chromosomal loops and forming the boundaries of structural domains. In addition, CTCF is an important transcription factor and regulator of antigen receptor and T cell receptor recombination events. CTCF inactivating events have been found in various human cancers. Loss-of-heterozygosity (LOH) or inactivating missense mutations in specific zinc- fingers have been identified in many human cancers including sporadic breast cancer, prostate cancer, Wilms-tumors and acute lymphoblastic le

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Sacco, Antonio, Yawara Kawano, Michele Moschetta, et al. "Dual Conditional Loss of BLIMP-1 and p53 in B-Cells Drives B-Cell Lymphomagenesis." Blood 128, no. 22 (2016): 4169. http://dx.doi.org/10.1182/blood.v128.22.4169.4169.

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Abstract Background. p53 is a well defined tumor suppressor involved in the modulation of cell proliferation, cell cycle progression and programmed cell death. BLIMP-1 plays a crucial role in modulating B-cell differentiation towards Ig-secreting plasma cells, and it acts as a tumor suppressor, as documented in both diffuse large B-cell lymphoma and Burkitt lymphoma. Whether B-cell specific loss of both p53 and BLIMP-1 may favor a B-cell lymphoma phenotype remains unanswered. We therefore aimed to generate in vivo dual p53/BLIMP-1-floxed conditional inactivation in B-cells, and to define the f

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Zemanova, Zuzana, Kyra Michalova, Karla Svobodova, et al. "Chromothripsis in High-Risk Myelodysplastic Syndromes: Incidence, Genetic Features, Clinical Implications, and Impact on Survival of Patients Treated with Azacytidine (Data from Czech MDS Group)." Blood 132, Supplement 1 (2018): 1815. http://dx.doi.org/10.1182/blood-2018-99-114151.

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Abstract Introduction: Chromothripsis is a recently identified genomic instability phenomenon that plays a role in the genesis and progression of cancer. It is a one-step catastrophic genomic event involving multiple chromosomal breakages and random DNA rejoining. This genetic abnormality can affect an entire chromosome, a chromosomal arm, or a single chromosomal region. Chromothripsis is associated with highly complex karyotypes and a very poor prognosis, and has been detected in a wide range of tumor entities, including hematological malignancies. However, this complex genomic abnormality ha

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Hamada, Motoharu, Hideki Muramatsu, Yusuke Okuno, et al. "Diagnostic Whole Exome Sequencing for 166 Patients with Inherited Bone Marrow Failure Syndrome." Blood 136, Supplement 1 (2020): 9. http://dx.doi.org/10.1182/blood-2020-143241.

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BACKGROUND: Inherited bone marrow failure syndromes (IBMFSs) are a heterogeneous group of genetic disorders characterized by bone marrow failure, physical anomalies, and various kinds of organ complications. In addition to classical IBMFSs, such as Fanconi anemia, Diamond-Blackfan anemia, Dyskeratosis congenita, Shwachman-Diamond syndrome, and familial platelet disorders, many types of unclassified IBMFSs are reported. Over 100 genes are considered causative genes; however, the precise genetic diagnosis of IBMFSs remains challenging. We developed a capture-based target sequencing method for IB

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Гусина, А. А., В. Ф. Иванова, К. А. Криницкая, and Н. Б. Гусина. "SLC4A11-Associated Hereditary Corneal Endothelial Dystrophies: Literature Review and Case Report." Офтальмология. Восточная Европа, no. 4 (February 9, 2021): 555–67. http://dx.doi.org/10.34883/pi.2020.10.4.027.

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Введение. Наследственные дистрофии роговицы – гетерогенная группа генетически детерминированных двусторонних, симметричных, медленно прогрессирующих поражений роговицы невоспалительного характера. Ген SLC4A11 кодирует синтез интегрального мембранного белка, который участвует в транспорте воды, ионов, аммиака и функционирует как молекула клеточной адгезии. Мутации в гене SLC4A11 в гетерозиготном состоянии описаны у пациентов с эндотелиальной дистрофией роговицы Фукса 4-го типа (OMIM: 613268). Гомозиготное или компаундное гетерозиготное носительство мутаций в гене SLC4A11 является причиной врожд

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Garg, Tarun K., Ricky D. Edmondson, Shweta S. Chavan, et al. "Differential ICAM3 Gene Expression Correlates with Susceptibility to Natural Killer Cell-Mediated Lysis in Multiple Myeloma." Blood 126, no. 23 (2015): 2990. http://dx.doi.org/10.1182/blood.v126.23.2990.2990.

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Abstract Introduction We previously reported on the generation of highly activated/expanded natural killer cells (ENKs) after coculture with K562 cells modified to express membrane bound IL15 and 41BB-ligand. These cells have potent antimyeloma properties in vitro, in a NGS mouse model, and are safe when given to advanced multiple myeloma (MM) patients. (Szmania et al, J Immunother 2015) A potential obstacle to the effectiveness of ENK-based immunotherapy of MM is the evasion of immune recognition. We have generated 4 MM cell lines (OPM2, JJN3, ANBL6, and INA-6) which are resistant to ENK-medi

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Neumann, Martin, Marco Seehawer, Cornelia Schlee, et al. "FAT1 Expression and Mutation Status In Adult Acute Lymphoblastic Leukemia." Blood 122, no. 21 (2013): 2564. http://dx.doi.org/10.1182/blood.v122.21.2564.2564.

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Abstract Introduction FAT1 belongs to the FAT protocadherin family, a drosophila homologous gene involved in development processes. Recently, FAT1 gained large interest as it is mutated in various cancers. Besides the known function of cell-cell interaction and polarity, FAT1 loss of function mutations have been linked to dysregulation of the WNT pathway in solid tumors. In acute lymphoblastic leukemia (ALL), aberrantly high expression of FAT1 was claimed to be associated with inferior outcome in pediatric B-lineage ALL. Herein, we investigated the yet unknown frequency and relevance of FAT1 e

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Vosberg, Sebastian, Tobias Herold, Klaus H. Metzeler, et al. "Copy Number Alteration (CNA) Analysis in Targeted Sequencing Data from Acute Myeloid Leukemia (AML) Patients with Chromosome 9q Deletion." Blood 124, no. 21 (2014): 1058. http://dx.doi.org/10.1182/blood.v124.21.1058.1058.

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Abstract Whole exome sequencing (WES) or customized gene panel sequencing (GPS) in acute myeloid leukemia (AML) is commonly used to detect point mutations and small insertions/deletions that might contribute to leukemogenesis. Beyond sequence variant detection, targeted sequencing also allows to detect gain or loss of genomic material in tumor cells (i.e. copy number alteration; CNA) based on the comparison of sequence coverage in target regions between samples. This approach allows not only for the detection of whole chromosome aneuploidies but also submicroscopic deletions or amplifications

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Rose-Zerilli, Matthew JJ, Gibson Jane, Jun Wang, et al. "Tracking Subclonal Mutations in IGHV-Mutated CLL with Progressive Disease." Blood 124, no. 21 (2014): 1962. http://dx.doi.org/10.1182/blood.v124.21.1962.1962.

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Abstract Most CLL is diagnosed with a low tumor burden with no indication for therapy. Biomarkers, such as unmutated IGHV genes, TP53 loss/mutation and raised β2M predict short time to first treatment and overall survival; however there remain patients with good risk biomarkers who nevertheless develop progressive disease. Advances in genomics and immunogenetics have lead to the discovery of new biomarkers and their integration with cytogenetic data refines outcome prediction. However these novel markers are predominantly found in IGHV unmutated cases (U-CLL). To identify novel genetic mechani

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Lawrie, Alastair, Timothee Cezard, Dominic J. Culligan, and Mark A. Vickers. "Exome Sequencing and Linkage Analysis Implicates Two Candidate Genes On Chromosome 3p in Familial Hodgkin Lymphoma." Blood 120, no. 21 (2012): 53. http://dx.doi.org/10.1182/blood.v120.21.53.53.

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Abstract Abstract 53 Background It is well recognised that a genetic component exists in classical Hodgkin lymphoma. Higher rates are seen in first-degree relatives of affected individuals, with high concordance observed in monozygotic compared to dizygotic twins. Numerous associations with HLA alleles have been demonstrated in both Epstein-Barr virus-positive and negative forms of the disease and several non-HLA genes have now been implicated. However, these genetic factors are insufficient to account for all the observed inherited risk. Methods We report a family from North-East Scotland con

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Nussenzveig, Roberto H., Mohamed E. Salama, Sherrie L. Perkins, Josef Prchal, and Archana M. Agarwal. "The Clinical Utility Of Next-Generation Sequencing In The Diagnosis Of Polycythemia." Blood 122, no. 21 (2013): 2185. http://dx.doi.org/10.1182/blood.v122.21.2185.2185.

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Abstract Polycythemia or erythrocytosis is a disorder characterized by expansion of the RBC mass, and can be primary or secondary. Primary polycythemia is caused by an acquired or inherited mutation, it includes polycythemia vera and familial/congenital variants. e.g. due to gain of function mutations in the erythropoietin receptor (EPOR), or mutations in the hypoxia sensing pathway. Secondary polycythemia is caused by a circulating factor stimulating erythropoiesis, usually erythropoietin (EPO). It is most often due to an EPO response to hypoxia, but can also result from an EPO-secreting tumo

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Weber, Simone, Manja Meggendorfer, Niroshan Nadarajah, et al. "Molecular Characterization of Philadelphia Chromosome Positive Acute Myeloid Leukemia - New Provisional Entity?" Blood 126, no. 23 (2015): 3846. http://dx.doi.org/10.1182/blood.v126.23.3846.3846.

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Abstract Introduction Philadelphia chromosome positive (Ph+) acute myeloid leukemia (Ph+AML) is discussed to be a new provisional entity for the upcoming WHO classification. Whether Ph+AML represents a distinct entity or rather embodies chronic myeloid leukemia in myeloid blast crisis (CML-BC) without preceding clinical manifestation is under debate mostly due to lack of robust criteria to reliably differentiate these two diseases. Further, while Ph+AML is clearly distinguishable from Ph+ acute lymphoblastic leukemia (Ph+ALL) based on immunophenotyping, recent studies demonstrated that Ph+AML

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Furness, Caroline L., Marcela B. Mansur, Victoria J. Weston, et al. "The Sub-Clonal Complexity of STIL-TAL1 T-ALL." Blood 124, no. 21 (2014): 3788. http://dx.doi.org/10.1182/blood.v124.21.3788.3788.

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Abstract Introduction The STIL-TAL1 fusion is found in 16% cases of paediatric and adolescent T-ALL, making it one of the most common T-ALL subgroups. Our study considers this leukaemia subtype in the context of a complex ecosystem that is diverse, evolving and subject to selective pressures. We used single cell methods to understand the order of co-operating mutational events and the clonal evolution of mutations in genes that are re-iteratively targeted, such as PTEN. Methods Diagnostic DNA from five STIL-TAL1 positive T-ALL cases was exome sequenced using Agilent SureSelect Human all Exon k

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Nacheva, Elisabeth P., Temenuzhka Boneva, Jenny O'Nions, et al. "Chromoanagenesis in Haematological Malignancy: Review of Samples from Patients with Acute Leukemia and MDS." Blood 142, Supplement 1 (2023): 1564. http://dx.doi.org/10.1182/blood-2023-186105.

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Background: Complex chromosome rearrangements (CCRs) include a variety of structural aberrations grouped as chromothripsis, chromoanasynthesis and chromoplexy. Although the underlying mechanisms for these phenomena are unknown and likely to be different, they appear to originate from a single event. While chromothripsis and chromoanasynthesis affect limited genome sites their role and genome associations in haematological malignancy remain to be elucidated. Aims: This study aimed to provide clarity on the location, incidence and association with TP53 gene profile of chromothripsis (cth) and ch

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Culen, Martin, Zdenka Kosarova, Ivana Jeziskova, et al. "Persistence of Mutations during Remission in 114 AML Patients." Blood 132, Supplement 1 (2018): 2796. http://dx.doi.org/10.1182/blood-2018-99-110586.

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Abstract Introduction: The current prognostic stratification of acute myeloid leukemia (AML) patients recognizes several recurrently mutated genes in AML as prognostic markers at the time of diagnosis. However, previous studies indicate that additional prognostic information can be further obtained by detection of pre-leukemic mutations that persist in clinical remission and represent clonal hematopoiesis. Aim: To analyze persistence of pre-leukemic mutations in AML patients at the time of disease remission and assess their prognostic relevance. Methods: Paired diagnosis and remission samples

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Mansouri, Larry, Lesley-Ann Sutton, Viktor Ljungstrom та ін. "Recurrent Mutations within the Nfkbie gene: A Novel Mechanism for NF-κB Deregulation in Aggressive Chronic Lymphocytic Leukemia". Blood 124, № 21 (2014): 297. http://dx.doi.org/10.1182/blood.v124.21.297.297.

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Abstract Dysregulated NF-κB signaling appears to be particularly important in B-cell malignancies, with recurrent mutations identified within both the canonical and non-canonical NF-κB pathways, as well as in components of the B-cell receptor (BcR) and Toll-like receptor (TLR) signaling pathways. In chronic lymphocytic leukemia (CLL), although recurrent mutations have been identified in MYD88 (TLR signaling) and BIRC3 (non-canonical NF-κB pathway), their frequency is low (<3%) and hence the extent to which genetic aberrations may contribute to constitutional NF-κB activation remains largely

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Nishijima, Dai, Mitsuko Akaihata, Yuka Iijima-Yamashita, et al. "Capture Sequencing Is a Useful Method for Comprehensive Clonality Analysis Based on Ig/TCR Gene Rearrangements in Acute Lymphoblastic Leukemia." Blood 132, Supplement 1 (2018): 1543. http://dx.doi.org/10.1182/blood-2018-99-115624.

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Abstract Introduction Immunoglobulin (Ig)/ T-cell receptor (TCR) gene rearrangements are the most widely used clonal marker to detect residual leukemic cells in patients with Acute Lymphoblastic Leukemia (ALL). Ig/TCR gene rearrangements based molecular minimum residual disease (MRD) monitoring has become one of the most powerful prognostic indicators for patients with ALL. Although the standard method of real-time quantitative PCR (RQ-PCR) provides very good sensitivity in MRD measurement, the workflow is very complicated and time-consuming, requiring expert technique and much work for operat

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DONG, Gehong, Qiang Gong, Jinhui Wang, et al. "Driver Mutations Affecting Natural Killer/T Cell Lymphoma." Blood 128, no. 22 (2016): 4109. http://dx.doi.org/10.1182/blood.v128.22.4109.4109.

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Abstract Natural killer/T cell lymphoma (NKTCL) is an aggressive subtype of non-Hodgkin lymphoma that is rare overall but has a higher prevalence in Chinese and Hispanic populations. Recent sequencing efforts have improved the understanding of the disease and revealed a number of genes that may drive the pathogenesis of NKTCL. These efforts were largely limited by the number of cases studied. Based on previously reported whole exome sequencing data in NKTCL and other lymphoid malignancies and on the frequency and potential biological significance of the mutant, we designed a 334-gene panel and

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Gerrard, Gareth, Mikel Valgañón, Hui En Foong, et al. "Target Enrichment and High-Throughput Sequencing of 80 Ribosomal Protein Genes to Identify Mutations Associated with Diamond-Blackfan Anaemia." Blood 120, no. 21 (2012): 2369. http://dx.doi.org/10.1182/blood.v120.21.2369.2369.

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Abstract Abstract 2369 Diamond-Blackfan anaemia (DBA) is a rare autosomal dominant disorder associated with inactivating mutations in ribosomal protein (RP) genes, causing defects in erythroid progenitor and precursor cell development. Many cases are due to de novo mutations and in family cases there is often clinical heterogeneity due to variable penetrance. Mutations in RPS19 account for 25% of all DBA cases and single nucleotide variations (SNV), indels and allele-loss deletions have been found in 11 other RP genes in a further ∼50% of patients. Around 25% of patients with DBA have no ident

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Heuck, Christoph, Niels Weinhold, Erich Allen Peterson, et al. "The Impact of Combination Chemotherapy and Tandem Stem Cell Transplant on Clonal Substructure and Mutational Pattern at Relapse of MM." Blood 126, no. 23 (2015): 372. http://dx.doi.org/10.1182/blood.v126.23.372.372.

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Abstract Introduction: Next generation sequencing of over 800 newly diagnosed multiple myeloma (NDMM) cases has established the mutational landscape and key cancer driver pathways. The mutational basis of relapse has not been systematically studied. Two previous studies (Keats et al.; Bolli et al.) identified 4 patterns of clonal evolution. Neither study included uniformly treated patients and looked at the impact of therapy on clonal structure at relapse. Understanding the mutational patterns underlying relapse and how they relate to specific therapies is crucial in order to improve MM outcom

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Malecka, Agnieszka, Gunhild Trøen, Anne Tierens, et al. "High Frequency of Somatic Mutations of KMT2D and CARD11 Genes in Cold Agglutinin Disease." Blood 128, no. 22 (2016): 2934. http://dx.doi.org/10.1182/blood.v128.22.2934.2934.

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Abstract Primary cold agglutinin disease (CAD) is a hemolytic anemia mediated by monoclonal anti-I autoantibodies. CAD is caused by an underlying low grade B-cell lymphoproliferative disease of the bone marrow with a typical histology that is different from lymphoplasmacytic lymphoma and, accordingly, does not display the MYD88 L265P mutation (Randen et al., Haematologica, 2014). Since CAD is a clonal lymphoproliferative disorder, we studied the mutational landscape to further characterize the disease and identify potential novel treatment approaches. We prospectively collected bone marrow sam

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McKerrell, Thomas D., Ignacio Varela, Nicolo Bolli, et al. "R.I.S.C.L: A Holistic Molecular Diagnostic Tool for Myeloid Malignancies." Blood 124, no. 21 (2014): 2342. http://dx.doi.org/10.1182/blood.v124.21.2342.2342.

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Abstract The genomic landscapes of acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), myeloproliferative disorders (MPD) and other related myeloid malignancies are now amongst the best characterized cancer genomes. These malignancies share most of their somatic driver mutations, many of which have therapeutic and prognostic significance (Patel et al, NEJM 2012). Patient prognostication and clinical decision-making can be greatly facilitated by testing for these mutations in parallel with established diagnostic assays. Here, we describe and validate RISCL (Rearrangements, Indels, Sub

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Romasko, Edward J., Sawona Biswas, Batsal Devkota, et al. "Utility of Whole Exome Sequencing in Diagnosis of Pediatric Platelet Disorders: A Subanalysis of the Pediseq Study." Blood 128, no. 22 (2016): 3726. http://dx.doi.org/10.1182/blood.v128.22.3726.3726.

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Abstract Background: Inherited Platelet Disorders (IPD) are individually rare disorders that have many different molecular causes. Diagnosis of IPD is often complicated by the need for complex testing that is not readily available at many centers and the lack of available testing to define the molecular cause of some disorders. While some platelet disorders are sufficiently defined by functional characterization, recent data suggests that some platelet disorders may predispose to significant other complications including cancer predisposition, myelofibrosis or hearing loss. Therefore, it may b

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Vrzalova, Zuzana, Katerina Stano Kozubik, Lenka Radova, Jakub Trizuljak, Sarka Pospisilova, and Michael Doubek. "Characterization of Pathogenic Variants Associated with Hereditary Thrombocytopenias in Families from the Czech Republic." Blood 134, Supplement_1 (2019): 2343. http://dx.doi.org/10.1182/blood-2019-122696.

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Introduction Inherited thrombocytopenias (IT) are a heterogeneous group of 33 different forms of monogenic disorders caused by molecular defects affecting 40 genes at least. The pathogenic germline variants play an important role in the development and maintenance of hematopoietic system (megakaryopoesis and thrombopoesis). These changes lead to disruption of these processes and are presented as the thrombocytopenia phenotype (low platelet count, blood-examination). However, patients are occasionally misdiagnosed with the immune thrombocytopenia and unsuccessfully treated with steroid therapy

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Vantyghem, Sophie, Pierre Peterlin, Sylvain Thepot, et al. "Multicentric Real Life Evaluation of the Impact of Next-Generation Sequencing on the Clinical Management of Chronic Myeloid Malignancies." Blood 134, Supplement_1 (2019): 5771. http://dx.doi.org/10.1182/blood-2019-122958.

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Introduction Next generation sequencing (NGS) has allowed to improve knowledge about the genomic landscape of hematological malignancies. Somatic mutations (SM) are valuable new biomarkers but the utility of incorporating routine sequencing to guide diagnosis and therapeutic decisions remains challenging. We report here an observational multicentric study aimed at assessing the impact of SM testing by NGS in a real-life setting on the diagnosis and treatment of chronic myeloid malignancies (CMM). Patients and Method All patients who benefited from molecular assessment, between 10/2014 and 03/2

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Litwiniuk‐Kosmala, Małgorzata, Maria Makuszewska, Kazimierz Niemczyk, Robert Bartoszewicz, Bartosz Wojtas, and Bartłomiej Gielniewski. "Small RNA Deep Sequencing Uncovers microRNAs Associated with Hearing Loss in Vestibular Schwannoma." Laryngoscope, March 9, 2024. http://dx.doi.org/10.1002/lary.31385.

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ObjectiveTo analyze the correlation between the miRNA expression profile in vestibular schwannoma (VS) tumor tissue and preoperative patient's hearing status, using the RNA‐seq technique.MethodsNineteen tumor samples were collected from patients operated for VS in a Tertiary Academic Center. Samples were classified into “good hearing” and “poor hearing” study group based on the results of audiometric studies. Tumor miRNA expression was analyzed using high‐throughput RNA sequencing (RNA‐seq) technique, using NovaSeq 6000 Illumina system. Functional analysis was performed with the use of DIANA m

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Fahimi, Hossein, Samira Behroozi, Sadaf Noavar, and Farshid Parvini. "A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss." BMC Medical Genomics 14, no. 1 (2021). http://dx.doi.org/10.1186/s12920-021-00884-4.

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Abstract Background Autosomal recessive non-syndromic hearing loss (ARNSHL) is genetically and phenotypically heterogeneous with over 110 genes causally implicated in syndromic and non-syndromic hearing loss. Here, we investigate the genetic etiology of deafness in two GJB2 and GJB6 negative patients presenting with pre-lingual, progressive, severe hearing loss. Methods Targeted exome sequencing (TES) using Next Generation Illumina Sequencing was used to analyze the exonic and some other important genomic regions of 154 genes in the proband. Subsequently, the mutation found was confirmed by Sa

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Adeberg, Sebastian, Maximilian Knoll, Christian Koelsche, et al. "DNA-methylome-assisted classification of patients with poor prognostic subventricular zone associated IDH-wildtype glioblastoma." Acta Neuropathologica, June 4, 2022. http://dx.doi.org/10.1007/s00401-022-02443-2.

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AbstractGlioblastoma (GBM) derived from the “stem cell” rich subventricular zone (SVZ) may constitute a therapy-refractory subgroup of tumors associated with poor prognosis. Risk stratification for these cases is necessary but is curtailed by error prone imaging-based evaluation. Therefore, we aimed to establish a robust DNA methylome-based classification of SVZ GBM and subsequently decipher underlying molecular characteristics. MRI assessment of SVZ association was performed in a retrospective training set of IDH-wildtype GBM patients (n = 54) uniformly treated with postoperative chemoradioth

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Jeppesen, Line Dahl, Lotte Hatt, Ripudaman Singh, et al. "Screening for Fetal Aneuploidy and Sex Chromosomal Anomalies in a Pregnant Woman With Mosaicism for Turner Syndrome—Applications and Advantages of Cell-Based NIPT." Frontiers in Genetics 12 (September 14, 2021). http://dx.doi.org/10.3389/fgene.2021.741752.

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Background: Cell-free NIPT and cell-based NIPT are risk-free testing options using maternal blood samples to screen for fetal aneuploidies, but the methods differ. For cell-free NIPT, the fetal fraction of cell-free DNA in plasma is analyzed with a high background of maternal DNA. In contrast, for cell-based NIPT, a limited number of the rare, intact fetal cells are isolated for the genetic analysis. This case demonstrates the differences regarding testing for fetal sex-chromosomes anomalies (SCAs) between these two tests.Materials and Methods: A pregnant woman with mosaicism for Turner syndro

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Klee, Philippe, Mirjam Dirlewanger, Valérie McLin, Maria Teresa Carminho, and Valerie M. Schwitzgebel. "SUN-602 Weight Loss After Glucagon-Like Peptide-1 Receptor Agonist Treatment in Childhood Obesity with Diabetes and Cirrhosis Associated with a Homozygous MC4R Mutation." Journal of the Endocrine Society 4, Supplement_1 (2020). http://dx.doi.org/10.1210/jendso/bvaa046.611.

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Abstract Background Mutations in the melanocortin-4 receptor (MC4R) represent the most common cause of monogenic obesity. Treatment options are limited but glucagon-like peptide-1 receptor agonists (GLP-1 RA) may be of use to induce weight loss. Methods Exome of the patient was captured using the Agilent SureSelect QXT Human All Exon V5 kit and sequenced on Illumina. Clinical findings and results We report obesity-associated diabetes and cirrhosis in a 13-year girl born from consanguineous parents of Afghan origin. Past medical history revealed mild mental retardation and excessive weight gain

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Collins, Jason M., Rahul Gondalia, Anne E. Justice, et al. "Abstract P143: Methylome-Wide Association Of DNA Methylation And Aircraft Noise Exposure In The Women’s Health Initiative." Circulation 141, Suppl_1 (2020). http://dx.doi.org/10.1161/circ.141.suppl_1.p143.

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Background: Noise pollution is common and can affect health, but mechanisms underlying this relationship remain incompletely characterized. We therefore examined the novel association between aircraft noise and DNA methylation (DNAm), an environmentally modifiable epigenetic phenomenon that affects gene expression and is associated with cardiovascular and neurological disease. Methods: We conducted a methylome-wide association study in race/ethnicity-stratified subpopulations of 4,535 post-menopausal Women’s Health Initiative participants (mean age: 64.4 years; 59.6% white; 24.7% African Ameri

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Galan Carrillo, Isabel, Liliana Galbis, Víctor Martínez Jiménez, et al. "MO039: Multidisciplinary approach improves genetic diagnosis of Alport syndrome in the next-generation sequencing ERA." Nephrology Dialysis Transplantation 37, Supplement_3 (2022). http://dx.doi.org/10.1093/ndt/gfac062.020.

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Abstract BACKGROUND AND AIMS Alport Syndrome (AS; ORPHA 63) is one of the most frequent hereditary kidney diseases (HKD), caused by COL4A5 mutations in X-linked AS (XLAS) and COL4A3-4 mutations in the autosomal forms, dominant (ADAS) and recessive (ARAS). Definitive diagnosis of AS is essential for starting treatment, prognosis and genetic counseling. Next-generation sequencing (NGS) has been implemented in our lab and integrated in a multidisciplinary approach with nephrologists, pediatricians, and clinical and molecular geneticists from four hospitals in the Spanish Region of Murcia (1.5 mil

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França, Monica Malheiros, Xiao Hui Liao, Gustavo Werpel Fernandes, et al. "OR01-01 Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism." Journal of the Endocrine Society 4, Supplement_1 (2020). http://dx.doi.org/10.1210/jendso/bvaa046.966.

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Abstract Iodothyronine deiodinases (Ds) mediate thyroid hormone (TH) action. They catalyze triiodothyronine (T3) production and degradation via, respectively; outer (ORD) and inner (IRD) ring deiodination. Type 1 D (D1) has a relatively high Km for substrates thyroxine (T4) and reverse T3 (rT3), catalyzes both ORD and IRD and is inhibited by propylthiouracil (PTU). Although no mutations in DIO1 gene have been reported so far in humans, based on the D1-deficient C3H mouse and the heterozygous Dio1 knockout mice, the expected phenotype of D1 loss-of-function is higher serum rT3 and slightly elev

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Tran, Quynh, Linh Tran, Hiroko Ueda, et al. "#4317 CLINICAL DIVERSITY OF STEROID-RESISTANT NEPHROTIC SYNDROME CAUSED BY TRPC6 MUTATIONS." Nephrology Dialysis Transplantation 38, Supplement_1 (2023). http://dx.doi.org/10.1093/ndt/gfad063c_4317.

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Abstract Background and Aims Steroid-resistant nephrotic syndrome (SRNS) is a clinically and genetically heterogeneous disorder caused by either genetic or immunological factors or their combination. Approximately 30–40% of patients with SRNS make a fast progression to ESRD. SRNS represents the second leading cause of end-stage renal disease in individuals under the age of 25 years worldwide. More than 60 podocyte-related gene mutations have thus far been reported in monogenic SRNS. Recent studies indicate that almost 30% of patients with childhood-onset SRNS have monogenic causative variants

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Aratani, Fernanda Queiroz, Debora Parreiras Di Matteo, Isabelle Pinheiro Amaro de Magalhães, et al. "8696 Whole Exome Sequence Analysis in a Naïve Cohort of Congenital Hypopituitarism in a Single Center." Journal of the Endocrine Society 8, Supplement_1 (2024). http://dx.doi.org/10.1210/jendso/bvae163.1378.

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Abstract Disclosure: F.Q. Aratani: None. D.P. Di Matteo: None. I.P. de Magalhães: None. P. Frudit: None. L.S. Motomia: None. S.K. Beeby: None. L.R. Barros: None. D.D. Bissegatto: None. L.R. Carvalho: None. Background: Deficiency of one or more pituitary hormones is defined as hypopituitarism. In the literature, molecular diagnosis (MD) is defined in 12% by the Sanger sequencing and large scale sequencing increased this number to 15%. Aim: To perform whole exome sequencing (WES) in a cohort of patients with congenital hypopituitarism (CH) naïve to MD approach. Patients: Nine patients with CH fo

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