Analysis of the CHD7 gene mutations in patients of congenital heart disease with extracardiac malformations.

ABSTRACT:

Background

Congenital heart disease (CHD) is a common birth defect, and is frequently accompanied with extracardiac malformations (ECM). Uncovering the genetic etiology of CHD may have a meaningful impact on disease management. De novo variants have been proven to be associated with CHD.

Methods

Whole exome sequencing was performed for 4 unrelated CHD families with extracardiac malformations, candidate genes were screened by using stringent bioinformatics analysis, and the obtained variants were confirmed by Sanger sequencing. RT-PCR and Sanger sequencing were used to investigate the influence of a splice variant on pre-mRNA splicing. Further targeted sequencing was conducted to investigate the association of CHD7 variants with sporadic CHD.

Results

Four novel

SUBMITTER: Huang X 

PROVIDER: S-EPMC10326764 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature