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

ConclusionThis study reveals an important contribution of germline variants in DCHS1 in unrelated patients with mitral valve prolapse and supports genetic testing of this gene to screen individuals at risk.

Loss‐of‐function variants in the DCHS1 gene were recently identified to segregate with mitral valve prolapse in three families. In this study, we reported rare and novel mutations predicted as similarly deleterious in 100 sporadic cases of mitral valve prolapse. The enrichment of in silico‐predicted deleterious variants in these cases supports the role of DCHS1 in the disease pathogenesis and highlights the importance of germline mutations in this gene to cause or increase disease susceptibility in sporadic cases.

Source: Molecular Genetics & Genomic Medicine - November 1, 2017 Category: Genetics & Stem Cells Authors: Alisson Clemenceau, Jean ‐Christophe Bérubé, Paméla Bélanger, Nathalie Gaudreault, Maxime Lamontagne, Oumhani Toubal, Marie‐Annick Clavel, Romain Capoulade, Patrick Mathieu, Philippe Pibarot, Yohan Bosse Tags: CLINICAL REPORT Source Type: research