Novel compound heterozygous mutation in <i>DNAH9</i> causes complex congenital heart disease.

ABSTRACT: Congenital heart disease (CHD) is the most common birth defect, affecting 2‑8% of newborns, with a marked impact on neonatal health. In the present study, the parents of a fetus diagnosed with CHD were recruited to investigate the genetic causes of this condition. Whole exome sequencing was conducted on tissue obtained from the fetus. A compound heterozygous mutation in the dynein axonemal heavy chain 9 (DNAH9) gene, comprising c.11176C>T (p.Arg3726Trp) and c.3743+1G>T, was identified. The c.11176C>T mutation has been previously reported as likely pathogenic, and c.3743+1G>T is a novel mutation. Sanger sequencing was employed for pedigree analysis. In addition, bioinformatics analyses were performed to predict the pathogenicity of the identified mutations, while in silico and

SUBMITTER: Liu X 

PROVIDER: S-EPMC12105450 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature