Cytogenomic Characterization of a Novel de novo Balanced Reciprocal Translocation t(1;12) by Genome Sequencing Leading to Fusion Gene Formation of EYA3/EFCAB4b
العنوان: | Cytogenomic Characterization of a Novel de novo Balanced Reciprocal Translocation t(1;12) by Genome Sequencing Leading to Fusion Gene Formation of EYA3/EFCAB4b |
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المؤلفون: | Usha R. Dutta, Amrita Bhattacherjee, Ashish Bahal, Laxmi P. Posanapally, Kaisar A. Lone, Siddardha Bathula, Ashwin Dalal |
المصدر: | Molecular Syndromology. 13:370-380 |
بيانات النشر: | S. Karger AG, 2022. |
سنة النشر: | 2022 |
مصطلحات موضوعية: | Genetics, Genetics (clinical) |
الوصف: | Introduction: The accurate detection of breakpoint regions of disease-associated chromosomal rearrangements helps understand the molecular mechanisms and identify the risks involved with disrupted genes. Methods: In this study, a girl with growth retardation is characterized using positional cloning and genome sequencing. The techniques include fluorescence in situ hybridization (FISH) with paint (WCP) and bacterial-artificial chromosomes (BAC) probes, PCR, real-time PCR, and short and long-read sequencing. Results: The translocation was identified by GTG banding and confirmed by WCP FISH. Microarray ruled out the involvement of other copy number variations except for 6 homozygous regions which are not disease-causing variants. Fine mapping with FISH showed split signals with BAC clone RP11-312A3. Genome sequencing of short-read with an average 30× depth and long-read sequencing technology with a 3.8× coverage identified both breakpoints, confirmed by Sanger sequencing, that showed microhomology. The breakpoint at 1p and 12p regions disrupted EYA3 and EFCAB4B genes. Expression analysis of EYA3 showed a 7-fold increase, suggesting the formation of a fusion gene with EFCAB4B. EYA3 is involved in skeleton development, and EFCAB4B plays a role in calcium metabolism, which may be relevant for the patient’s phenotype. Conclusion: The systematic application of genome techniques to translocations and their advantages is discussed. |
تدمد: | 1661-8777 1661-8769 |
URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::b374fd89563d59948a0c57f7bfda7aaf https://doi.org/10.1159/000522011 |
حقوق: | CLOSED |
رقم الأكسشن: | edsair.doi...........b374fd89563d59948a0c57f7bfda7aaf |
قاعدة البيانات: | OpenAIRE |
تدمد: | 16618777 16618769 |
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