Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3.

ABSTRACT:

Purpose

Variants in genes encoding sarcomeric proteins are the most common cause of inherited cardiomyopathies. However, the underlying genetic cause remains unknown in many cases. We used exome sequencing to reveal the genetic etiology in patients with recessive familial cardiomyopathy.

Methods

Exome sequencing was carried out in three consanguineous families. Functional assessment of the variants was performed.

Results

Affected individuals presented with hypertrophic or dilated cardiomyopathy of variable severity from infantile- to early adulthood-onset and sudden cardiac death. We identified a homozygous missense substitution (c.170C>A, p.[Ala57Asp]), a homozygous translation stop codon variant (c.106G>T, p.[Glu36Ter]), and a presumable homozygous essential splice

SUBMITTER: Osborn DPS 

PROVIDER: S-EPMC8026398 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature