ArticleScientific reports2015
NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity.
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 45 citations in OpenAlex.
- Human Genetics of Atrial Septal Defect.Advances in experimental medicine and biology · 2024Review
- Alternative polyadenylation regulation in cardiac development and cardiovascular disease.Cardiovascular research · 2023Review
- Brazilian Guidelines for Cardiac Implantable Electronic Devices - 2023.Arquivos brasileiros de cardiologia · 2023Article
- Nkx2.5: a crucial regulator of cardiac development, regeneration and diseases.Frontiers in cardiovascular medicine · 2023Review
- A Novel Splicing Mutation c.335-1 G > A in the Cardiac Transcription Factor NKX2-5 Leads to Familial Atrial Septal Defect Through miR-19 and PYK2.Stem cell reviews and reports · 2022Article
- NKX2-5 variants screening in patients with atrial septal defect in Indonesia.BMC medical genomics · 2022Article
- Crystal Structures of Ternary Complexes of MEF2 and NKX2-5 Bound to DNA Reveal a Disease Related Protein-Protein Interaction Interface.Journal of molecular biology · 2020Article
- Epigenetic and Transcriptional Networks Underlying Atrial Fibrillation.Circulation research · 2020Review
- A comprehensive in silico analysis, distribution and frequency of humanJournal of cardiovascular and thoracic research · 2019Article
- Expanding the electrical phenotype ofHeartRhythm case reports · 2018Article
- Electrical disorders in atrial septal defect: genetics and heritability.Journal of thoracic disease · 2018Review
- Nkx genes establish second heart field cardiomyocyte progenitors at the arterial pole and pattern the venous pole through Isl1 repression.Development (Cambridge, England) · 2018Article
- A HAND to TBX5 Explains the Link Between Thalidomide and Cardiac Diseases.Scientific reports · 2017Article
- Point mutations in murineJCI insight · 2017Article
- NKX2-5 molecular screening and assessment of variant rate and risk factors of secundum atrial septal defect in a Moroccan population.Anatolian journal of cardiology · 2017Article
- Nkx2.5 regulates endothelin converting enzyme-1 during pharyngeal arch patterning.Genesis (New York, N.Y. : 2000) · 2017Article
- HAND1 Loss-of-Function Mutation Causes Tetralogy of Fallot.Pediatric cardiology · 2017Article
- TBX20 loss-of-function mutation responsible for familial tetralogy of Fallot or sporadic persistent truncus arteriosus.International journal of medical sciences · 2017Article
- MEF2C loss-of-function mutation contributes to congenital heart defects.International journal of medical sciences · 2017Article
- Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a Novel NKX2-5 Mutation and a Review of the Literature.Congenital heart disease · 2016Review
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
Abstract
NKX2-5 mutations are associated with different forms of congenital heart disease. Despite the knowledge gained from molecular and animal studies, genotype-phenotype correlations in humans are limited by the lack of large cohorts and the incomplete assessment of family members. We hypothesized that studying the role of NKX2-5 in inbred populations with homogeneous genetic backgrounds and high consanguinity rates such as Lebanon could help closing this gap. We sequenced NKX2-5 in 188 index CHD cases (25 with ASD). Five variants (three segregated in families) were detected in eleven families including the previously documented p.R25C variant, which was found in seven patients from different families, and in one healthy individual. In 3/5 familial dominant ASD cases, we identified an NKX2-5 mutation. In addition to the heterogeneity of NKX2-5 mutations, a diversity of phenotypes occurred within the families with predominant ASD and AV block. We did in fact identify a large prevalence of Sudden Cardiac Death (SCD) in families with truncating mutations, and two patients with coronary sinus disease. NKX2-5 is thus responsible for dominant familial ASD even in consanguineous populations, and a wide genetic and phenotypic diversity is characteristic of NKX2-5 mutations in the Lebanese population.
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Registered trials
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