A novel de novo dominant mutation of NOTCH1 gene in an Iranian family with non-syndromic congenital heart disease.

ABSTRACT:

Background

Congenital heart disease (CHD) is the most common birth defect which can arises from different genetic defects. The genetic heterogeneity of this disease leads to restricted success in candidate genes screening method. Emerging approaches such as next-generation sequencing (NGS)-based genetic analysis might provide a better understating of CHD etiology in the patients who are left undiagnosed. To this aim, in this study, we survived the causes of CHD in an Iranian family who was consanguineous and had two affected children.

Methods

Affected individuals of this family were checked previously by PCR-direct sequencing for six candidate genes (NKX2-5, ZIC3, NODAL, FOXH1, GJA1, GATA4) and had not revealed any reported CHD causative mutations. Whole-exome sequencing (WE

SUBMITTER: Kalayinia S 

PROVIDER: S-EPMC7171333 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature