Biallelic Variants in <i>ASNA1</i>, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy.

ABSTRACT:

Background

Pediatric cardiomyopathies are a clinically and genetically heterogeneous group of heart muscle disorders associated with high morbidity and mortality. Although knowledge of the genetic basis of pediatric cardiomyopathy has improved considerably, the underlying cause remains elusive in a substantial proportion of cases.

Methods

Exome sequencing was used to screen for the causative genetic defect in a pair of siblings with rapidly progressive dilated cardiomyopathy and death in early infancy. Protein expression was assessed in patient samples, followed by an in vitro tail-anchored protein insertion assay and functional analyses in zebrafish.

Results

We identified compound heterozygous variants in the highly conserved ASNA1 gene (arsA arsenite transpor

SUBMITTER: Verhagen JMA 

PROVIDER: S-EPMC7205403 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature