ArticlePloS one2014
Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- Pooled it
- Enhanced genetic diagnosis in early pregnancy loss: an integrated approach using CNV-Seq and STR genotyping.Reproductive biology and endocrinology : RB&E · 2026Article
- Genomic spectrum of congenital heart disease combined with kidney and urinary tract anomalies uncovered by exome sequencing and array-CGH.Frontiers in cell and developmental biology · 2026Article
- Prenatally diagnosed chromosome 1p36 deletions: a retrospective case series, literature review, and genotype-phenotype correlations.BMC medical genomics · 2025Review
- Genome-wide DNA methylation profiling in blood reveals epigenetic signature of incident acute coronary syndrome.Nature communications · 2024Article
- PRDM16 co-operates with LHX2 to shape the human brain.Oxford open neuroscience · 2024Article
- Human Genetics of Ebstein Anomaly.Advances in experimental medicine and biology · 2024Review
- Role of the CASZ1 transcription factor in tissue development and disease.European journal of medical research · 2023Review
- Article
- 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.American journal of medical genetics. Part A · 2023Article
- Machine learning and bioinformatics to identify 8 autophagy-related biomarkers and construct gene regulatory networks in dilated cardiomyopathy.Scientific reports · 2022Article
- Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart?Journal of cardiovascular development and disease · 2022Review
- 1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review.Journal of cardiovascular development and disease · 2021Article
- Psychiatric Comorbidities in 1p36 Deletion Syndrome and Their Treatment-A Case Report.International journal of environmental research and public health · 2021Article
- Causal influences of neuroticism on mental health and cardiovascular disease.Human genetics · 2021Article
- SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.American journal of human genetics · 2021Article
- LUZP1 Controls Cell Division, Migration and Invasion Through Regulation of the Actin Cytoskeleton.Frontiers in cell and developmental biology · 2021Article
- Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation.Molecular syndromology · 2020Article
- A rare cardiac phenotype of dextrocardia observed in a fetus with 1p36 deletion syndrome and a balanced translocation: a prenatal case report.Molecular cytogenetics · 2020Article
- LUZP1 and the tumor suppressor EPLIN modulate actin stability to restrict primary cilia formation.The Journal of cell biology · 2020Article
Corrections and comments
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Authors and funding
14 authors at 8 institutions in 6 countries.
Funding
Abstract
Cardiovascular malformations and cardiomyopathy are among the most common phenotypes caused by deletions of chromosome 1p36 which affect approximately 1 in 5000 newborns. Although these cardiac-related abnormalities are a significant source of morbidity and mortality associated with 1p36 deletions, most of the individual genes that contribute to these conditions have yet to be identified. In this paper, we use a combination of clinical and molecular cytogenetic data to define five critical regions for cardiovascular malformations and two critical regions for cardiomyopathy on chromosome 1p36. Positional candidate genes which may contribute to the development of cardiovascular malformations associated with 1p36 deletions include DVL1, SKI, RERE, PDPN, SPEN, CLCNKA, ECE1, HSPG2, LUZP1, and WASF2. Similarly, haploinsufficiency of PRDM16-a gene which was recently shown to be sufficient to cause the left ventricular noncompaction-SKI, PRKCZ, RERE, UBE4B and MASP2 may contribute to the development of cardiomyopathy. When treating individuals with 1p36 deletions, or providing prognostic information to their families, physicians should take into account that 1p36 deletions which overlie these cardiac critical regions may portend to cardiovascular complications. Since several of these cardiac critical regions contain more than one positional candidate gene-and large terminal and interstitial 1p36 deletions often overlap more than one cardiac critical region-it is likely that haploinsufficiency of two or more genes contributes to the cardiac phenotypes associated with many 1p36 deletions.
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