ArticleAmerican journal of medical genetics. Part A2014
Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects.
Article in American journal of medical genetics. Part A, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 24 citations in OpenAlex.
- SNAI2/SLUG: a key regulator of endothelial-to-mesenchymal transition and vascular remodeling in cardiovascular diseases.Journal of cardiothoracic surgery · 2026Review
- Epithelial-mesenchymal transition-related genes in coronary artery disease.Open medicine (Warsaw, Poland) · 2022Article
- Prenatal and postnatal diagnoses and phenotype of 8p23.3p22 duplication in one family.BMC medical genomics · 2021Article
- Genetic and epigenetic mechanisms in the development of congenital heart diseases.World journal of pediatric surgery · 2021Review
- A familial congenital heart disease with a possible multigenic origin involving a mutation in BMPR1A.Scientific reports · 2019Article
- [Research progress on genetic and epigenetic mechanisms in congenital heart disease].Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2018Review
- Transposition of the great arteries - a phenotype associated with 16p11.2 duplications?World journal of cardiology · 2017Article
- Whole-exome sequencing to identify novel mutations of nevoid basal cell carcinoma syndrome in a Chinese population.Cancer biomarkers : section A of Disease markers · 2017Article
- Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test.Molecular syndromology · 2017Article
- Mutation Screening of Gata4 Gene in CTD Patients Within Chinese Han Population.Pediatric cardiology · 2017Article
- The importance of copy number variation in congenital heart disease.NPJ genomic medicine · 2016Article
- De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.PLoS genetics · 2016Article
- Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects.BioMed research international · 2015Article
- Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion.BMC medical genetics · 2014Article
- Haploinsufficiency of insulin gene enhancer protein 1 (ISL1) is associated with d-transposition of the great arteries.Molecular genetics & genomic medicine · 2014Article
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7 authors at 2 institutions in 1 country.
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Abstract
Congenital heart defects (CHDs) are common malformations, affecting four to eight per 1,000 total births. Conotruncal defects are an important pathogenetic subset of CHDs, comprising nearly 20% of the total. Although both environmental and genetic factors are known to contribute to the occurrence of conotruncal defects, the causes remain unknown for most. To identify novel candidate genes/loci, we used array comparative genomic hybridization to detect chromosomal microdeletions/duplications. From a population base of 974,579 total births born during 1999-2004, we screened 389 California infants born with tetralogy of Fallot or d-transposition of the great arteries. We found that 1.7% (5/288) of males with a conotruncal defect had sex chromosome aneuploidy, a sevenfold increased frequency (relative risk = 7.0; 95% confidence interval 2.9-16.9). We identified eight chromosomal microdeletions/duplications for conotruncal defects. From these duplications and deletions, we found five high priority candidate genes (GATA4, CRKL, BMPR1A, SNAI2, and ZFHX4). This is the initial report that sex chromosome aneuploidy is associated with conotruncal defects among boys. These chromosomal microduplications/deletions provide evidence that GATA4, SNAI2, and CRKL are highly dosage sensitive genes involved in outflow tract development. Genome wide screening for copy number variation can be productive for identifying novel genes/loci contributing to non-syndromic common malformations.
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