ArticleMolecular genetics & genomic medicine2022
Identification of a novel heterozygous SOX9 variant in a Chinese family with congenital heart disease.
Article in Molecular genetics & genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
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7 citing papers in PubMed, 1 synthesis or guideline pooled it, 7 citations in OpenAlex.
- AOP Report: Aryl Hydrocarbon Receptor Activation Leads to Early-Life Stage Mortality via Sox9 Repression-Induced Craniofacial and Cardiac Malformations.Environmental toxicology and chemistry · 2023Pooled it
- Article
- [Incomplete penetrance of SOX10 gene mutation in a family with Waardenburg syndrome type Ⅳ].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2026Article
- Sox9 in the second heart field and the development of the outflow tract; implications for cardiac septation and valve formation.Developmental dynamics : an official publication of the American Association of Anatomists · 2025Article
- Discovery ofBiology · 2023Article
- Identification and genetic analysis of rare variants in myosin family genes in 412 Han Chinese congenital heart disease patients.Molecular genetics & genomic medicine · 2022Article
- Identification of a novel heterozygous SOX9 variant in a Chinese family with congenital heart disease.Molecular genetics & genomic medicine · 2022Article
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrevious 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.
methodsThree 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 variant was further confirmed by Sanger sequencing of other members of the family.
resultsOn the basis of the family's pedigree, the mode of inheritance was speculated to be autosomal dominant with incomplete penetrance. We identified a novel heterozygous missense variant in SOX9 in all affected individuals and one asymptomatic family member, suggesting an inheritance pattern with incomplete penetrance. The variant was not found in any public database. In addition, the variant was highly conserved among mammals, and was predicted to be deleterious by online software programs.
conclusionsWe report for the first time a novel heterozygous missense variant in SOX9 (NM_000346:c.931G>T:p.Gly311Cys) in a Chinese CHD family. Our results provide further evidence supporting a causative role for SOX9 variants in CHD.
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