Whole exome sequencing identifies a KCNJ12 mutation as a cause of familial dilated cardiomyopathy
| Autor: | Hai-Xin Yuan, Juan Zhang, Dong-Yan Hou, Lin Zhang, Kai Yan, Xiao-Rong Xu, Wen-Shu Zhao, Xin Wang, Hua Wang, Lin Xu, Yan-Hong Liang, Zhi-Yong Zhang |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Cardiomyopathy Dilated Male Cardiomyopathy Observational Study 030204 cardiovascular system & hematology Gene mutation Sudden death Polymorphism Single Nucleotide DNA sequencing 03 medical and health sciences symbols.namesake KCNJ12 channel 0302 clinical medicine Medicine Humans Exome cardiovascular diseases Potassium Channels Inwardly Rectifying gene Exome sequencing Genetics Sanger sequencing business.industry Genetic heterogeneity familial High-Throughput Nucleotide Sequencing Dilated cardiomyopathy General Medicine medicine.disease dilated cardiomyopathy 030104 developmental biology cardiovascular system symbols ComputingMethodologies_DOCUMENTANDTEXTPROCESSING Female business Research Article |
| Zdroj: | Medicine |
| ISSN: | 1536-5964 0025-7974 |
| Popis: | Supplemental Digital Content is available in the text Dilated cardiomyopathy (DCM) is characterized by left ventricular dilation, and is associated with systolic dysfunction and increased action potential duration. Approximately 50% of DCM cases are caused by inherited gene mutations with genetic and phenotypic heterogeneity. Next generation sequencing may be useful in screening unknown mutations in such cases. A family was identified with DCM, in which the affected family members developed heart failure, arrhythmia, and sudden death. Probands and 4 affected family members underwent whole exome sequencing (WES), bioinformatics methods, and gene annotation to identify potentially causative variants. The Sanger sequencing method was used to verify the candidate mutation. WES yielded 2,238,831 variations. KCNJ12 (p.Glu334del) was identified as a candidate mutation, and the heterozygous mutation was verified by Sanger sequencing. Our study emphasizes the application of WES in identifying causative mutations in DCM. This report is the first to describe the KCNJ12 gene as a cause of DCM in patients. |
| Databáze: | OpenAIRE |
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