A biallelic loss-of-function variant in MYZAP is associated with a recessive form of severe dilated cardiomyopathy.

ABSTRACT:

Purpose

Dilated cardiomyopathy (DCM) is a primary disorder of the cardiac muscle, characterised by dilatation of the left ventricle and contractile dysfunction. About 50% of DCM cases can be attributed to monogenic causes, whereas the aetiology in the remaining patients remains unexplained.

Methods

We report a family with two brothers affected by severe DCM with onset in the adolescent period. Using exome sequencing, we identified a homozygous premature termination variant in the MYZAP gene in both affected sibs. MYZAP encodes for myocardial zonula adherens protein - a conserved cardiac protein in the intercalated disc structure of cardiomyocytes.

Results

The effect of the variant was demonstrated by light and electron microscopy of the heart muscle and immunohistoche

SUBMITTER: Maver A 

PROVIDER: S-EPMC9528970 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature