An interesting Mybpc3 heterozygous mutation associated with bicuspid aortic valve.

ABSTRACT:

Background

Bicuspid aortic valve (BAV) is a common congenital heart defect (0.5-2.0% in the adult), potentially an onset factor of aortic stenosis (AS). Increasing evidence demonstrates that genetic risk factors play a key role in the pathogenesis of BAV, but the genetic basis underlying this cardiac malformation remains poorly understood.

Methods

Whole exome sequencing (WES) was utilized to uncover genetic variants associated with BAV. Pathogenicity score and mode of inheritance through bioinformatics tools were undertook to identify the possible disease-causing mutation.

Results

A heterozygous Ala58Val mutation in Myosin binding protein C (Mybpc3) was identified out of 2,840 variants in an 11-year-old female patient. The proband and her father were confirmed to be h

SUBMITTER: Zhao X 

PROVIDER: S-EPMC7658766 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature