Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.

ABSTRACT:

Background

Familial dilated cardiomyopathy (DCM) is typically a monogenic disorder with dominant inheritance. Although over 40 genes have been linked to DCM, more than half of the patients undergoing comprehensive genetic testing are left without molecular diagnosis. Recently, biallelic protein-truncating variants (PTVs) in the nebulin-related anchoring protein gene (NRAP) were identified in a few patients with sporadic DCM.

Methods and results

We determined the frequency of rare NRAP variants in a cohort of DCM patients and control patients to further evaluate role of this gene in cardiomyopathies. A retrospective analysis of our internal variant database consisting of 31,639 individuals who underwent genetic testing (either panel or direct exome sequencing) was performed.

SUBMITTER: Koskenvuo JW 

PROVIDER: S-EPMC7857588 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature