Deleterious variants in DCHS1 are prevalent in sporadic cases of mitral valve prolapse.

ABSTRACT:

Background

A recent study identified DCHS1 as a causal gene for mitral valve prolapse. The goal of this study is to investigate the presence and frequency of known and novel variants in this gene in 100 asymptomatic patients with moderate to severe organic mitral regurgitation.

Methods

DNA sequencing assays were developed for two previously identified functional missense variants, namely p.R2330C and p.R2513H, and all 21 exons of DCHS1. Pathogenicity of variants was evaluated in silico.

Results

p.R2330C and p.R2513H were not identified in this cohort. Sequencing all coding regions revealed eight missense variants including six considered deleterious. This includes one novel variant (p.A2464P) and two rare variants (p.R2770Q and p.R2462Q). These variants are predicted

SUBMITTER: Clemenceau A 

PROVIDER: S-EPMC5823682 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature