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Littérature scientifique sur le sujet « Cryptic Mosaicism »

Auteur : Grafiati

Publié le 14 mars 2023

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Articles de revues sur le sujet "Cryptic Mosaicism"

Čulić, Vida, Ruzica Lasan-Trcić, Thomas Liehr, Igor N. Lebedev, Maja Pivić, Jasminka Pavelic et Robert Vulić. « A Familial Small Supernumerary Marker Chromosome 15 Associated with Cryptic Mosaicism with Two Different Additional Marker Chromosomes Derived de novo from Chromosome 9 : Detailed Case Study and Implications for Recurrent Pregnancy Loss ». Cytogenetic and Genome Research 156, n^o 4 (2018) : 179–84. http://dx.doi.org/10.1159/000494822.

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We report a case of familial small supernumerary marker chromosome 15 in a phenotypically normal female with 4 recurrent spontaneous abortions and a healthy child. The initial karyotype showed a small, bisatellited, apparently metacentric marker chromosome, 47,XX,+idic(15)(q11.1), maternally inherited. The proband's mother was mosaic for the idic(15)(q11.1) without pregnancy loss. Reexamination of the proband's karyotype revealed cryptic mosaicism for 1 ring and 1 minute chromosome derived de novo from chromosome 9 in 2% of the metaphases. In FISH analysis, the patient's karyotype was mos 47,XX,+idic(15)(q11.1)mat[100]/49,XX,+idic(15)(q11.1)mat,+r(9;9;9;9),+der(9)dn[2]. The second spontaneous abortion had trisomy 9 (47,XX,+9); the third had mosaic trisomy 9 in 21% of the nuclei and isodicentric chromosome 15 in 36% of the nuclei (mos 48,XN,+9,+idic(15)(q11.1)/47,XN,+9/47,XN,+idic(15)(q11.1)/46,XN). The first and fourth abortions were not cytogenetically studied. The cause of the spontaneous abortions in this patient is likely the cryptic mosaicism for ring and minute chromosomes 9, and gonadal mosaicism is most probable, due to the 2 abortions.

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Dupont, Celine, Andree Delahaye, Lydie Burglen, Anne-Claude Tabet, Azzedine Aboura, Samia Kanafani, Françoise Baverel, Thierry Billette de Villemeur, Brigitte Benzacken et Eva Pipiras. « First cryptic balanced reciprocal translocation mosaicism and familial transmission ». American Journal of Medical Genetics Part A 146A, n^o 22 (15 novembre 2008) : 2971–74. http://dx.doi.org/10.1002/ajmg.a.32547.

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Stefanou, E.-G., M. Crocker, A. Boon et H. Stewart. « Cryptic mosaicism for monosomy 20 identified in renal tract cells ». Clinical Genetics 70, n^o 3 (12 juillet 2006) : 228–32. http://dx.doi.org/10.1111/j.1399-0004.2006.00652.x.

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Aliaga, Solange M., Howard R. Slater, David Francis, Desiree Du Sart, Xin Li, David J. Amor, Angelica M. Alliende et al. « Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis ». Clinical Chemistry 62, n^o 2 (1 février 2016) : 343–52. http://dx.doi.org/10.1373/clinchem.2015.244681.

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Abstract BACKGROUND FMR1 full mutations (FMs) (CGG expansion >200) in males mosaic for a normal (<45 CGG) or gray-zone (GZ) (45–54 CGG) allele can be missed with the standard 2-step fragile X syndrome (FXS) testing protocols, largely because the first-line PCR tests showing a normal or GZ allele are not reflexed to the second-line test that can detect FM. METHODS We used methylation-specific quantitative melt analysis (MS-QMA) to determine the prevalence of cryptic FM alleles in 2 independent cohorts of male patients (994 from Chile and 2392 from Australia) referred for FXS testing from 2006 to 2013. All MS-QMA–positive cases were retested with commercial triplet primed PCR, methylation-sensitive Southern blot, and a methylation-specific EpiTYPER-based test. RESULTS All 38 FMs detected with the standard 2-step protocol were detected with MS-QMA. However, MS-QMA identified methylation mosaicism in an additional 15% and 11% of patients in the Chilean and Australian cohorts, respectively, suggesting the presence of a cryptic FM. Of these additional patients, 57% were confirmed to carry cryptic expanded alleles in blood, buccal mucosa, or saliva samples. Further confirmation was provided by identifying premutation (CGG 55–199) alleles in mothers of probands with methylation-sensitive Southern blot. Neurocognitive assessments showed that low-level mosaicism for cryptic FM alleles was associated with cognitive impairment or autism. CONCLUSIONS A substantial number of mosaic FM males who have cognitive impairment or autism are not diagnosed with the currently recommended 2-step testing protocol and can be identified with MS-QMA as a first-line test.

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Daniel, Art, Zhanhe Wu, Artur Darmanian, Paul Malafiej, Varsha Tembe, Greg Peters, Craig Kennedy et Lesley Adès. « Issues arising from the prenatal diagnosis of some rare trisomy mosaics—the importance of cryptic fetal mosaicism ». Prenatal Diagnosis 24, n^o 7 (juillet 2004) : 524–36. http://dx.doi.org/10.1002/pd.936.

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McDonough, Paul G., et Sandra P. T. Tho. « Clinical implications of overt and cryptic Y mosaicism in individuals with dysgenetic gonads ». International Congress Series 1298 (octobre 2006) : 13–20. http://dx.doi.org/10.1016/j.ics.2006.06.011.

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Bispo, Adriana Valéria Sales, Pollyanna Burégio-Frota, Luana Oliveira dos Santos, Gabriela Ferraz Leal, Andrea Rezende Duarte, Jacqueline Araújo, Vanessa Cavalcante da Silva, Maria Tereza Cartaxo Muniz, Thomas Liehr et Neide Santos. « Y chromosome in Turner syndrome : detection of hidden mosaicism and the report of a rare X;Y translocation case ». Reproduction, Fertility and Development 26, n^o 8 (2014) : 1176. http://dx.doi.org/10.1071/rd13207.

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Turner syndrome (TS) is a common genetic disorder in females associated with the absence of complete or parts of a second sex chromosome. In 5–12% of patients, mosaicism for a cell line with a normal or structurally abnormal Y chromosome is identified. The presence of Y-chromosome material is of medical importance because it results in an increased risk of developing gonadal tumours and virilisation. Molecular study and fluorescence in situ hybridisation approaches were used to study 74 Brazilian TS patients in order to determine the frequency of hidden Y-chromosome mosaicism, and to infer the potential risk of developing malignancies. Additionally, we describe one TS girl with a very uncommon karyotype 46,X,der(X)t(X;Y)(p22.3?2;q11.23) comprising a partial monosomy of Xp22.3?2 together with a partial monosomy of Yq11.23. The presence of cryptic Y-chromosome-specific sequences was detected in 2.7% of the cases. All patients with Y-chromosome-positive sequences showed normal female genitalia with no signs of virilisation. Indeed, the clinical data from Y-chromosome-positive patients was very similar to those with Y-negative results. Therefore, we recommend that the search for hidden Y-chromosome mosaicism should be carried out in all TS cases and not be limited to virilised patients or carriers of a specific karyotype.

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Murdock, David R., Frank X. Donovan, Settara C. Chandrasekharappa, Nicole Banks, Carolyn Bondy, Maximilian Muenke et Paul Kruszka. « Whole-Exome Sequencing for Diagnosis of Turner Syndrome : Toward Next-Generation Sequencing and Newborn Screening ». Journal of Clinical Endocrinology & ; Metabolism 102, n^o 5 (24 janvier 2017) : 1529–37. http://dx.doi.org/10.1210/jc.2016-3414.

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Abstract Context: Turner syndrome (TS) is due to a complete or partial loss of an X chromosome in female patients and is not currently part of newborn screening (NBS). Diagnosis is often delayed, resulting in missed crucial diagnostic and therapeutic opportunities. Objectives: This study sought to determine if whole-exome sequencing (WES) as part of a potential NBS program could be used to diagnose TS. Design, Setting, Patients: Karyotype, chromosomal microarray, and WES were performed on blood samples from women with TS (n = 27) enrolled in the Personalized Genomic Research study at the National Institutes of Health. Female control subjects (n = 37) and male subjects (n = 27) also underwent WES. Copy number variation was evaluated using EXCAVATOR2 and B allele frequency was calculated from informative single nucleotide polymorphisms. Simulated WES data were generated for detection of low-level mosaicism and complex structural chromosome abnormalities. Results: We detected monosomy for chromosome X in all 27 TS samples, including 1 mosaic for 45,X/46,XX and another with previously unreported material on chromosome Y. Sensitivity and specificity were both 100% for the diagnosis of TS with no false-positive or false-negative results. Using simulated WES data, we detected isochromosome Xq and low-level mosaicism as low as 5%. Conclusion: We present an accurate method of diagnosing TS using WES, including cases with low-level mosaicism, isochromosome Xq, and cryptic Y-chromosome material. Given the potential use of next-generation sequencing for NBS in many different diseases and syndromes, we propose WES can be used as a screening test for TS in newborns.

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Pinto, Anna Maria, Sergio Daga, Chiara Fallerini, Mirella Bruttini, Margherita Baldassarri, Annarita Giliberti, Elisa Frullanti, Andrea Guarnieri, Guido Garosi et Alessandra Renieri. « Detection of Cryptic Mosaicism in X-linked Alport Syndrome Prompts to Re-evaluate Living-donor Kidney Transplantation ». Transplantation 104, n^o 11 (31 décembre 2019) : 2360–64. http://dx.doi.org/10.1097/tp.0000000000003104.

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Kim, Jin Woo, Eun Hee Cho, Young Mi Kim, Jin Mee Kim, Jung Yeol Han et So Yeon Park. « Detection of cryptic Y chromosome mosaicism by coamplification PCR with archived cytogenetic slides of suspected Turner syndrome ». Experimental & ; Molecular Medicine 32, n^o 1 (mars 2000) : 38–41. http://dx.doi.org/10.1038/emm.2000.7.

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Thèses sur le sujet "Cryptic Mosaicism"

Daga, Sergio. « CRISPR/Cas9 gene therapy on urine-derived-podocyte-lineage cells and novel biomarker identification : new perspectives in Alport Syndrome (ATS) ». Doctoral thesis, Università di Siena, 2019. http://hdl.handle.net/11365/1072659.

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Alport syndrome (ATS) is an inherited genetic disorder characterized by glomerular basement membrane (GBM) abnormalities up to end-stage renal disease. Usually, in the most severe forms nephropathy is associated with involvement of eyes and ears because of COL4 chains expression being restricted to kidney, ear and eye. Podocytes, key component of the glomerular structure, are the only cells in the kidney able to produce the COLIVα3-α4-α5 heterotrimer and thus, they are extensively defined as key-players in the pathogenesis of the renal disease. We have demonstrated how it is possible to isolate podocyte-lineage cells from urines of ATS patients and healthy carriers, providing an easily available cell system closer to podocytes’ physiological conditions. Our cellular model represents a novel tool and it turned out to be useful not only to characterize the effect of spliceogenic intronic variants but also to identify the presence of cryptic mosaicism confined to the involved tissue and undetectable on peripheral blood samples. This finding dramatically increases the possibility to implement, theoretically with no limits, the molecular genetic test that we can offer to patients. On the basis of the RNA-Seq data analysis, we have investigated the involvement of IL-32 in ATS. Being convinced about the fundamental role of IL-32 in ATS, and confirming the real involvement of the IL-32/IL-6/IL-8 pathway in podocytes, we performed the most sensitive ELISA assay to detect IL-32 release into urines of ATS patients. Although no such generous amounts of IL-32 were found in the urines, the values found are reported as sufficient to define a peculiar activation of the IL-32 pathway and more in general inflammatory pathway definitely related to the disease. At the end, we have explored the innovative gene therapy approach, that we hope will be definitive in the treatment of the disease, directly on the affected cells isolated from patients, exploring the possibility of reverting collagen IV causative mutations in ATS injured podocytes. With this work and with the achieved results we have demonstrated that gene therapy through gene editing approach is not anymore an unexplored frontier, but it can become an increasingly convincing reality. Although preliminary, the achieved results demonstrate how it is possible to obtain a partial recovery of the causative COL4A3 and COL4A5 mutations, unbalancing the heterozygous state towards the wild type condition. All the results taken together will be fundamental to open new frontiers of management and treatment of the disorder, also in preclinical model, like in dog model through the use of easy-deliverable AAVs system.

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