ArticleAmerican journal of medical genetics. Part A2013
The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle.
Article in American journal of medical genetics. Part A, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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22 citing papers in PubMed, 46 citations in OpenAlex.
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- Non-coding cause of congenital heart defects: Abnormal RNA splicing with multiple isoforms as a mechanism for heterotaxy.HGG advances · 2024Article
- Pathogenesis and Surgical Treatment of Dextro-Transposition of the Great Arteries (D-TGA): Part II.Journal of clinical medicine · 2024Review
- NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.Genome medicine · 2024Article
- In-Depth Genomic Analysis: The New Challenge in Congenital Heart Disease.International journal of molecular sciences · 2024Review
- Case Report: An unusual case of a transposition of the great arteries with a double aortic arch: a highly complex fetal diagnosis with an unpredictable outcome.Frontiers in cardiovascular medicine · 2024Article
- Human Genetics of d-Transposition of Great Arteries.Advances in experimental medicine and biology · 2024Review
- Human Genetics of Tetralogy of Fallot and Double-Outlet Right Ventricle.Advances in experimental medicine and biology · 2024Review
- Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.Circulation research · 2022Article
- Genetics of Transposition of Great Arteries: Between Laterality Abnormality and Outflow Tract Defect.Journal of cardiovascular translational research · 2021Review
- In Vivo and In Vitro Genetic Models of Congenital Heart Disease.Cold Spring Harbor perspectives in biology · 2021Review
- A novel ZIC3 gene mutation identified in patients with heterotaxy and congenital heart disease.Scientific reports · 2018Article
- Familial co-occurrence of congenital heart defects follows distinct patterns.European heart journal · 2018Article
- ZIC3 in Heterotaxy.Advances in experimental medicine and biology · 2018Review
- Rare novel variants in the ZIC3 gene cause X-linked heterotaxy.European journal of human genetics : EJHG · 2016Article
- A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field.European journal of human genetics : EJHG · 2016Article
- Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association.Human mutation · 2015Article
- Copy number variants and the genetic enigma of congenital heart disease.Circulation research · 2014Article
- D-transposition of the great arteries: the current era of the arterial switch operation.Journal of the American College of Cardiology · 2014Review
- Risk of congenital heart disease in relatives of probands with conotruncal cardiac defects: an evaluation of 1,620 families.American journal of medical genetics. Part A · 2014Article
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Abstract
Disease causing mutations for heterotaxy syndrome were first identified in the X-linked laterality gene, ZIC3. Mutations typically result in males with situs ambiguus and complex congenital heart disease; however affected females and one male with isolated d-transposition of the great arteries (d-TGA) have been reported. We hypothesized that a subset of patients with heart defects common to heterotaxy but without laterality defects would have ZIC3 mutations. We also sought to estimate the prevalence of ZIC3 mutations in sporadic heterotaxy. Patients with TGA (n = 169), double outlet right ventricle (DORV; n = 89), common atrioventricular canal (CAVC; n = 41), and heterotaxy (n = 54) underwent sequencing of ZIC3 exons. We tested 90 patients with tetralogy of Fallot (TOF) to correlate genotype with phenotype. Three potentially disease-related missense mutations were detected: c.49G > T (Gly17Cys) in a female with isolated DORV, c.98C > T (Ala33Val) in a male with isolated d-TGA, and c.841C > T (His281Tyr) in a female with sporadic heterotaxy. We also identified a novel insertion (CPFP333ins) in a family with heterotaxy. All were absent in 200 control patients and the 1000 Genomes Project (n = 629). No significant mutations were found in patients with TOF. Functional studies demonstrated reduced transcriptional activity of the ZIC3 His281Tyr mutant protein. ZIC3 mutations were rarely identified in isolated DORV and d-TGA suggesting that a subset of DORV and d-TGA may fall within the spectrum of laterality defects. ZIC3 mutations were found in 3.7% of patients with sporadic heterotaxy; therefore testing should be considered in patients with heterotaxy.
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