ArticleHuman molecular genetics2013
MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.
Article in Human molecular genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- Isolated Coarctation of the Aorta: Current Concepts and Perspectives.Frontiers in cardiovascular medicine · 2022Pooled it
- Host Genetic Regulation of NLRP3 Inflammasome Cytokines Reveals Immune and Vascular Pathways in HIV.medRxiv : the preprint server for health sciences · 2026Article
- Roles of insulin-like growth factor 1 receptor in growth regulation in 15q26 deletion and duplication syndrome.Biomedical reports · 2026Article
- MCTP1 and MCTP2 promote ER-PM contact sites and regulate PI4P homeostasis and cell migration.Molecular biology of the cell · 2026Article
- A Genome-Wide Association Study of Colorectal Cancer Mortality Outcomes Among Individuals of African and Admixture Ancestry.Molecular carcinogenesis · 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
- Identifying novel Japanese heart failure variants via endothelialBioinformatics advances · 2026Article
- Investigating the impact of MCTP2 on immune suppression and drug resistance in glioblastoma.Functional & integrative genomics · 2025Article
- Article
- The onset of coarctation of the aorta before birth: Mechanistic insights from fetal arch anatomy and haemodynamics.Computers in biology and medicine · 2024Article
- Genomic adaptation to small population size and saltwater consumption in the critically endangered Cat Ba langur.Nature communications · 2024Article
- Use of Frogs as a Model to Study the Etiology of HLHS.Journal of cardiovascular development and disease · 2023Article
- Article
- Analysis of the MCTP Amino Acid Sequence Reveals the Conservation of Putative Calcium- and Lipid-Binding Pockets Within the C2 Domains In Silico.Journal of molecular evolution · 2022Article
- Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery.PLoS genetics · 2022Article
- Computational estimates of annular diameter reveal genetic determinants of mitral valve function and disease.JCI insight · 2022Article
- Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.Journal of the American Heart Association · 2021Review
- Analysis of the contribution of 129 candidate genes to thoracic aortic aneurysm or dissection of a mixed cohort of sporadic and familial cases in South China.American journal of translational research · 2021Article
- A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta.European heart journal · 2018Article
- Transcriptome analysis of IL-10-stimulated (M2c) macrophages by next-generation sequencing.Immunobiology · 2017Article
Corrections and comments
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Authors and funding
27 authors at 6 institutions in 1 country.
Funding
Abstract
Coarctation of the aorta (CoA) and hypoplastic left heart syndrome (HLHS) have been reported in rare individuals with large terminal deletions of chromosome 15q26. However, no single gene important for left ventricular outflow tract (LVOT) development has been identified in this region. Using array-comparative genomic hybridization, we identified two half-siblings with CoA with a 2.2 Mb deletion on 15q26.2, inherited from their mother, who was mosaic for this deletion. This interval contains an evolutionary conserved, protein-coding gene, MCTP2 (multiple C2-domains with two transmembrane regions 2). Using gene-specific array screening in 146 individuals with non-syndromic LVOT obstructive defects, another individual with HLHS and CoA was found to have a de novo 41 kb intragenic duplication within MCTP2, predicted to result in premature truncation, p.F697X. Alteration of Mctp2 gene expression in Xenopus laevis embryos by morpholino knockdown and mRNA overexpression resulted in the failure of proper OT development, confirming the functional importance of this dosage-sensitive gene for cardiogenesis. Our results identify MCTP2 as a novel genetic cause of CoA and related cardiac malformations.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.