ArticleHuman mutation2014
Genetic and functional analyses of ZIC3 variants in congenital heart disease.
Article in Human mutation, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 55 citations in OpenAlex.
- Prevalence and cardiovascular phenotypes of dextrocardia and situs inversus among 277,396 adults: longitudinal evidence of amplified age-related blood pressure progression.Orphanet journal of rare diseases · 2026Article
- Reanalysis of Next-Generation Sequencing Data to Detect Tandem Repeat Expansions in 1,106 Czech Probands With Neurologic Disease.Neurology. Genetics · 2025Article
- Application of copy number variation sequencing combined with whole exome sequencing in prenatal left-right asymmetry disorders.BMC genomics · 2025Article
- Non-coding cause of congenital heart defects: Abnormal RNA splicing with multiple isoforms as a mechanism for heterotaxy.HGG advances · 2024Article
- Left-Sided Heart Defects and Laterality Disturbance in Hypoplastic Left Heart Syndrome.Journal of cardiovascular development and disease · 2023Review
- A multi-disciplinary, comprehensive approach to management of children with heterotaxy.Orphanet journal of rare diseases · 2022Review
- Human-gained heart enhancers are associated with species-specific cardiac attributes.Nature cardiovascular research · 2022Article
- Mesp1 controls the chromatin and enhancer landscapes essential for spatiotemporal patterning of early cardiovascular progenitors.Nature cell biology · 2022Article
- High Familial Recurrence of Congenital Heart Defects in Laterality Defects Patients: An Evaluation of 184 Families.Pediatric cardiology · 2021Observational
- Loss of Zic3 impairs planar cell polarity leading to abnormal left-right signaling, heart defects and neural tube defects.Human molecular genetics · 2021Article
- Genetic Basis of Human Congenital Heart Disease.Cold Spring Harbor perspectives in biology · 2020Article
- Genetic architecture of laterality defects revealed by whole exome sequencing.European journal of human genetics : EJHG · 2019Article
- Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.Circulation · 2018Review
- A novel ZIC3 gene mutation identified in patients with heterotaxy and congenital heart disease.Scientific reports · 2018Article
- Genome and epigenome analysis of monozygotic twins discordant for congenital heart disease.BMC genomics · 2018Article
- Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa.Omics : a journal of integrative biology · 2018Review
- ZIC3 in Heterotaxy.Advances in experimental medicine and biology · 2018Review
- Noncompaction cardiomyopathy and heterotaxy syndrome.Progress in pediatric cardiology · 2017Article
- The determination factors of left-right asymmetry disorders- a short review.Clujul medical (1957) · 2017Review
- Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2016Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Mutations in zinc-finger in cerebellum 3 (ZIC3) result in heterotaxy or isolated congenital heart disease (CHD). The majority of reported mutations cluster in zinc-finger domains. We previously demonstrated that many of these lead to aberrant ZIC3 subcellular trafficking. A relative paucity of N- and C-terminal mutations has, however, prevented similar analyses in these regions. Notably, an N-terminal polyalanine expansion was recently identified in a patient with VACTERL, suggesting a potentially distinct function for this domain. Here we report ZIC3 sequencing results from 440 unrelated patients with heterotaxy and CHD, the largest cohort yet examined. Variants were identified in 5.2% of sporadic male cases. This rate exceeds previous estimates of 1% and has important clinical implications for genetic testing and risk-based counseling. Eight of 11 were novel, including 5 N-terminal variants. Subsequent functional analyses included four additional reported but untested variants. Aberrant cytoplasmic localization and decreased luciferase transactivation were observed for all zinc-finger variants, but not for downstream or in-frame upstream variants, including both analyzed polyalanine expansions. Collectively, these results expand the ZIC3 mutational spectrum, support a higher than expected prevalence in sporadic cases, and suggest alternative functions for terminal mutations, highlighting a need for further study of these domains.
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