Back to Search
Start Over
Whole exome sequencing identifies a KCNJ12 mutation as a cause of familial dilated cardiomyopathy
- Source :
- Medicine
- Publication Year :
- 2017
- Publisher :
- Wolters Kluwer Health, 2017.
-
Abstract
- Supplemental Digital Content is available in the text<br />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.
- Subjects :
- 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
Subjects
Details
- Language :
- English
- ISSN :
- 15365964 and 00257974
- Volume :
- 96
- Issue :
- 33
- Database :
- OpenAIRE
- Journal :
- Medicine
- Accession number :
- edsair.doi.dedup.....d707cf4eebeee06bf9bb62258e818740