A genetic and developmental biological approach for a family with complex congenital heart diseases-evidence of digenic inheritance.

ABSTRACT:

Objective

Congenital heart disease (CHD) is caused by cardiovascular developmental defects and has a global prevalence of ∼1%. The etiology of CHD is multifactorial and remains generally unknown, despite advances in analytical techniques based on next-generation sequencing (NGS). The aim of our study was to elucidate the multi-genetic origin and pathogenesis of an intriguing familial case with complex CHD.

Methods

We performed an original trio-based gene panel analysis using NGS of the family, including two siblings with CHD of single ventricular phenotype, and their unaffected parents. The pathogenicity of the detected rare variants was investigated in silico, and the functional effects of the variants were confirmed in vitro using luciferase assays. The combi

SUBMITTER: Yoshida Y 

PROVIDER: S-EPMC10166836 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature