Identification of a novel heterozygous SOX9 variant in a Chinese family with congenital heart disease.

ABSTRACT:

Background

Previous studies of individuals with hereditary or sporadic congenital heart disease (CHD) have provided strong evidence for a genetic basis for CHD. The aim of this study was to identify novel pathogenic genes and variants in a Chinese CHD family.

Methods

Three generations of a family with CHD were recruited. We performed whole exome sequencing for the affected individuals and the proband's unaffected aunt to investigate the genetic causes of CHD in this family. Heterozygous variants carried by the proband and her maternal grandmother, but not the proband's aunt, were selected. The frequencies of the variants detected were assessed using public databases, and their influences on protein function were predicted using online prediction software. The candidate varia

SUBMITTER: Gong L 

PROVIDER: S-EPMC9034670 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature