INTRODUCTIONTargeted sequencing of a locus linked to mitral valve prolapse (MVP) on chromosome 11p15.4 in four affected members of an extended family revealed protein‐altering variants in the DCHS1 gene (Durst et al., ) (OMIM #603057). A loss‐of‐function variant, labeled p.R2513H, in exon 21 segregated with the disease in this large pedigree. In two additional families, a second protein damaging variant, p.R2330C, in DCHS1 segregated with mitral valve prolapse. Mitral valve interstitial cells transfected with cDNA constructs demonstrated reduced protein stability of mutants (p.R2513H and p.R2330C) compared to wild‐type alleles. In the same study, Dchs1‐deficient mice (Dchs1+/−) exhibited mitral valve prolapse confirming that loss of function of this gene results in disease.Mitral valve prolapse is a common disease affecting approximately 2.4% of the population (Freed et al., ). The contribution of rare DCHS1 genetic variants to sporadic form of MVP remains to be determined. The goal of this study is to investigate the presence of p.R2513H and p.R2330C in a series of unrelated French Canadian patients with MVP and also to comprehensively screen the coding regions of DCHS1 to find other potentially deleterious variants.MATERIALS AND METHODSEthical complianceAll patients provided written informed consent and the study was approved by the ethics committee of
Molecular Genetics & Genomic Medicine – Wiley
Published: Jan 1, 2018
Keywords: ; ; ; ;
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