ArticleScientific reports2018
A novel ZIC3 gene mutation identified in patients with heterotaxy and congenital heart disease.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 24 citations in OpenAlex.
- Broadening horizons: new links between cilia and heart development and disease.Frontiers in cardiovascular medicine · 2026Review
- In vivo modeling of lethal congenital contracture syndrome 1 suggests pathomechanisms in cellular stress responses.The FEBS journal · 2025Article
- Gpr101 expression during early stages of murine development.Gene expression patterns : GEP · 2025Article
- Identification of candidate genes harboring pathogenic variants in congenital heart disease and laterality defects in Chinese population.Frontiers in genetics · 2025Article
- Non-coding cause of congenital heart defects: Abnormal RNA splicing with multiple isoforms as a mechanism for heterotaxy.HGG advances · 2024Article
- Application of CRISPR-Cas9 gene editing for congenital heart disease.Clinical and experimental pediatrics · 2021Article
- CFrontiers in neurology · 2020Review
- Genetics of Congenital Heart Disease.Biomolecules · 2019Review
- A novel conserved enhancer at zebrafish zic3 and zic6 loci drives neural expression.Developmental dynamics : an official publication of the American Association of Anatomists · 2019Article
- Genetic and genomics in congenital heart disease: a clinical review.Jornal de pediatriaReview
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Authors and funding
15 authors at 2 institutions in 1 country.
Funding
Abstract
Heterotaxy syndrome (HTX) is characterized by left-right (LR) asymmetry disturbances associated with severe heart malformations. However, the exact genetic cause of HTX pathogenesis remains unclear. The aim of this study was to investigate the pathogenic mechanism underlying heterotaxy syndrome. Targeted next-generation sequencing (NGS) was performed for twenty-two candidate genes correlated with LR axis development in sixty-six HTX patients from unrelated families. Variants were filtered from databases and predicted in silico using prediction programs. A total of twenty-one potential disease-causing variants were identified in seven genes. Next, we used Sanger sequencing to confirm the identified variants in the family pedigree and found a novel hemizygous mutation (c.890G > T, p.C297F) in the ZIC3 gene in a male patient that was inherited from his mother, who was a carrier. The results of functional indicated that this ZIC3 mutation decreases transcriptional activity, affects the affinity of the GLI-binding site and results in aberrant cellular localization in transfected cells. Moreover, morpholino-knockdown experiments in zebrafish demonstrated that zic3 mutant mRNA failed to rescue the abnormal phenotype, suggesting a role for the novel ZIC3 mutation in heterotaxy syndrome.
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