Article
Deleterious variants in DCHS1 are prevalent in sporadic cases of mitral valve prolapse.
Molecular genetics & genomic medicine - 1 Jan 2018
Clemenceau Alisson, Bérubé Jean-Christophe, Bélanger Paméla, Gaudreault Nathalie, Lamontagne Maxime, Toubal Oumhani, Clavel Marie-Annick, Capoulade Romain, Mathieu Patrick, Pibarot Philippe, Bosse Yohan
Abstract excerpt
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,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.