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

Alisson ClemenceauJean-Christophe BérubéPaméla BélangerNathalie GaudreaultMaxime LamontagneOumhani ToubalMarie-Annick ClavelRomain CapouladePatrick MathieuPhilippe PibarotYohan Bosse

Published in: Molecular genetics & genomic medicine (2017)

This 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.

Keyphrases

mitral valve
copy number
left atrial
left ventricular
genome wide
high throughput
late onset
urinary incontinence
dna repair
heart failure
gene expression
cord blood
genome wide identification
single cell