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Article

Novel filamin C (FLNC) variant causes a severe form of familial mixed hypertrophic-restrictive cardiomyopathy.

American journal of medical genetics. Part A - 1 Jun 2023

Gaudreault Nathalie, Ruel Louis-Jacques, Henry Cyndi, Schleit Jennifer, Lagüe Patrick, Champagne Jean, Sénéchal Mario, Sarrazin Jean-François, Philippon François, Bossé Yohan, Steinberg Christian

Abstract excerpt

Variants of filamin C (FLNC) have been identified as rare genetic substrate for hypertrophic cardiomyopathy (HCM). Data on the clinical course of FLNC-related HCM are conflicting with some studies suggesting mild phenotypes whereas other studies have reported more severe outcomes. In this study, we present a novel FLNC variant (Ile1937Asn) that was identified in a large family of French-Canadian descent with...

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PMID: 36864778
DOI: 10.1002/ajmg.a.63169

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