Identification of a novel variant in N-cadherin associated with dilated cardiomyopathy.

ABSTRACT:

Background

Dilated cardiomyopathy (DCM), which is a major cause of heart failure, is a primary cardiac muscle disease with high morbidity and mortality rates. DCM is a genetically heritable disease and more than 10 gene ontologies have been implicated in DCM. CDH2 encodes N-cadherin and belongs to a superfamily of transmembrane proteins that mediate cell-cell adhesion in a calcium-dependent manner. Deficiency of CDH2 is associated with arrhythmogenic right ventricular cardiomyopathy (OMIM: 618920) and agenesis of the corpus callosum, cardiac, ocular, and genital syndrome (OMIM: 618929). However, there have been no reports of isolated DCM associated with CDH2 deficiency.

Methods

We performed whole exome sequencing in a 12-year-old girl with non-syndromic

SUBMITTER: Chen Y 

PROVIDER: S-EPMC9468813 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature