Key result
Whole exome sequencing identified a missense mutation (G1546S) in the FLNC gene that co-segregated with restrictive and hypertrophic cardiomyopathy in a four-generation family.
Observational (n=4)
The identification of a novel FLNC missense mutation in a family with restrictive cardiomyopathy and desminopathy expands the genetic etiology of RCM and suggests a role for filamin C in its pathogenesis.
Should not yet alter genetic testing panels; leaves open a potential FLNC role in restrictive cardiomyopathy pending validation.
Aim: Idiopathic cardiomyopathy is often genetic in origin, typically autosomal dominant, and restrictive cardiomyopathy (RCM) is the rarest form. Clinically, RCM prognosis is poor with most patients requiring heart transplant due to impaired diastolic function leading to heart failure. In some cases, desminopathy is also observed, whereby desmin protein aggregates in the myocardium. Many genes are known to be involved in cardiomyopathy, and we sought to find the pathogenic mutation of a four-generation family with RCM and desminopathy.
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Sanoja et al. (2018) conducted an observational in Restrictive cardiomyopathy (n=4). FLNC c.4636G>A G1546S variant vs. Wild-type FLNC was evaluated on Identification of pathogenic variants. Whole exome sequencing identified a missense mutation (G1546S) in the FLNC gene that co-segregated with restrictive and hypertrophic cardiomyopathy in a four-generation family.
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