A novel missense mutation in obscurin gene in a Chinese consanguineous family with left ventricular noncompaction.

ABSTRACT:

Background

Left ventricular noncompaction (LVNC) is an increasingly recognised cardiomyopathy of which a significant percentage are genetic in origin. The purpose of the present study was to identify potential pathogenic mutation leading to disease in a Chinese LVNC family.

Methods

A 3-generation family affected by LVNC was recruited. Clinical assessments were performed on available family members, with clinical examination, ECG, echocardiography and cardiac MRI. The proband (I-2), the proband's daughter (II-1, affected) and mother (III-1, unaffected) were selected for WGS. Sanger sequencing were performed in all of the 4 surviving family members.

Results

Combined whole genome sequencing with linkage analysis identified a novel missense mutation in the giant protein o

SUBMITTER: Dong XQ 

PROVIDER: S-EPMC9361159 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature