ArticleMolecular genetics & genomic medicine2014
Haploinsufficiency of insulin gene enhancer protein 1 (ISL1) is associated with d-transposition of the great arteries.
Article in Molecular genetics & genomic medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- Correlations between ISL1 rs1017 polymorphism and congenital heart disease risk: A PRISMA-compliant meta-analysis.Medicine · 2020Pooled it
- Enhancer of zeste homolog 2 (Ezh2) is required in mouse Isl1-expressing progenitors for proper development of cardiac and skeletal hindlimb structures.Biology open · 2026Article
- DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects.Genome medicine · 2026Article
- The multi-lineage transcription factor ISL1 controls cardiomyocyte cell fate through interaction with NKX2.5.Stem cell reports · 2023Article
- Genetic Variants ofBiomolecules · 2023Article
- Genetics of Transposition of Great Arteries: Between Laterality Abnormality and Outflow Tract Defect.Journal of cardiovascular translational research · 2021Review
- Spotlight on Isl1: A Key Player in Cardiovascular Development and Diseases.Frontiers in cell and developmental biology · 2021Review
- Pioneering function of Isl1 in the epigenetic control of cardiomyocyte cell fate.Cell research · 2019Article
- Identification and Functional Characterization of an ISL1 Mutation Predisposing to Dilated Cardiomyopathy.Journal of cardiovascular translational research · 2019Article
- Disruption of spatiotemporal hypoxic signaling causes congenital heart disease in mice.The Journal of clinical investigation · 2017Article
- Data on single-step purification method for dye-labeled DNA sequencing.Data in brief · 2016Article
- Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects.BioMed research international · 2015Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Congenital heart defects are the most common malformation, and are the foremost causes of mortality in the first year of life. Among congenital heart defects, conotruncal defects represent about 20% and are severe malformations with significant morbidity. Insulin gene enhancer protein 1 (ISL1) has been considered a candidate gene for conotruncal heart defects based on its embryonic expression pattern and heart defects induced in Isl1 knockout mice. Nevertheless no mutation of ISL1 has been reported from any human subject with a heart defect. From a population base of 974,579 births during 1999-2004, we used multiplex ligation-dependent probe amplification to screen for microdeletions/duplications of ISL1 among 389 infants with tetralogy of Fallot or d-transposition of the great arteries (d-TGA). We also sequenced all exons of ISL1. We identified a novel 20-kb microdeletion encompassing the entire coding region of ISL1, but not including either flanking gene, from an infant with d-TGA. We confirmed that the deletion was caused by nonhomologous end joining mechanism. Sequencing of exons of ISL1 did not reveal any subject with a novel nonsynonymous mutation. This is the first report of an ISL1 mutation of a child with a congenital heart defect.
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Registered trials
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