Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital heart disease.

ABSTRACT:

Background

Myosin VI, encoded by MYH6, is expressed dominantly in human cardiac atria and plays consequential roles in cardiac muscle contraction and comprising the cardiac muscle thick filament. It has been reported that the mutations in the MYH6 gene associated with sinus venosus atrial septal defect (ASD type III), hypertrophic (HCM) and dilated (DCM) cardiomyopathies.

Methods

Two patients in an Iranian family have been identified who affected to Congenital Heart Disease (CHD). The male patient, besides CHD, shows that the thyroglossal sinus, refractive errors of the eye and mitral stenosis. The first symptoms emerged at the birth and diagnosis based on clinical features was made at about 5 years. The family had a history of ASD. For recognizing mutated gene (s), whole ex

SUBMITTER: Razmara E 

PROVIDER: S-EPMC6029398 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature