Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies.

ABSTRACT:

Introduction

Transgenic mice overexpressing mutated NEBL, encoding the cardiac-specific Z-disk protein nebulette, develop severe cardiac phenotypes. Since cardiomyopathies are commonly familial and because mutations in a single gene may result in variable phenotypes, we tested the hypothesis that NEBL mutations are associated with cardiomyopathy.

Material and methods

We analyzed 389 patients, including cohorts of patients with dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), and left ventricular non-compaction cardiomyopathy (LVNC). The 28 coding exons of the NEBL gene were sequenced. Further bioinformatic analysis was used to distinguish variants.

Results

In total, we identified six very rare heterozygous missense mutations in NEBL in 7 different pati

SUBMITTER: Perrot A 

PROVIDER: S-EPMC4848357 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature