A novel loss-of-function mutation in NRAP is associated with left ventricular non-compaction cardiomyopathy.

ABSTRACT:

Background

The nebulin-related-anchoring protein (NRAP) gene encodes actin-associated ankyrin. Few studies reported the association of the NRAP gene with cardiomyopathy. Thus, the genetic role of this gene in cardiomyopathy remains to be investigated.

Methods

The clinical data of the rare case of left ventricular non-compaction (LVNC) were collected and analyzed. Whole-exome sequencing (WES) was performed on related family members. Western blot was used to detect the effect of mutation on the NRAP protein expression. The effect of the c.259delC variant on myocardial development was further evaluated in a zebrafish model.

Results

A novel homozygous frameshift mutation c.259delC of NRAP was found in the proband with LVNC. It was found that c.

SUBMITTER: Zhang Z 

PROVIDER: S-EPMC9940605 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature