ArticleJournal of clinical laboratory analysis2020
A novel de novo dominant mutation of NOTCH1 gene in an Iranian family with non-syndromic congenital heart disease.
Article in Journal of clinical laboratory analysis, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12 citing papers in PubMed, 24 citations in OpenAlex.
- Association Study ofCardiology research and practice · 2025Article
- A Novel Case ofCase reports in genetics · 2025Article
- Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.European journal of human genetics : EJHG · 2024Article
- A whole-exome sequencing study of patent foramen ovale: investigating genetic variants and their association with cardiovascular disorders.Frontiers in genetics · 2024Article
- A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects.European journal of medical research · 2022Article
- A comprehensive multi-omics analysis reveals molecular features associated with cancer via RNA cross-talks in the Notch signaling pathway.Computational and structural biotechnology journal · 2022Article
- SOX7 loss-of-function variation as a cause of familial congenital heart disease.American journal of translational research · 2022Article
- Prevalence of Structural Heart Diseases Detected by Handheld Echocardiographic Device in School-Age Children in Iran: The SHED LIGHT Study.Global heart · 2022Article
- A Phenotype and Genotype Case Report of a Neonate With Congenital Bilateral Coronary Artery Fistulas and Multiple Collateral Arteries.Frontiers in cardiovascular medicine · 2022Article
- Association analysis of maternal MTHFR gene polymorphisms and the occurrence of congenital heart disease in offspring.BMC cardiovascular disorders · 2021Article
- A novel de novo dominant mutation of NOTCH1 gene in an Iranian family with non-syndromic congenital heart disease.Journal of clinical laboratory analysis · 2020Article
- A novel TBX5 mutation predisposes to familial cardiac septal defects and atrial fibrillation as well as bicuspid aortic valve.Genetics and molecular biology · 2020Article
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4 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital heart disease (CHD) is the most common birth defect which can arises from different genetic defects. The genetic heterogeneity of this disease leads to restricted success in candidate genes screening method. Emerging approaches such as next-generation sequencing (NGS)-based genetic analysis might provide a better understating of CHD etiology in the patients who are left undiagnosed. To this aim, in this study, we survived the causes of CHD in an Iranian family who was consanguineous and had two affected children.
methodsAffected individuals of this family were checked previously by PCR-direct sequencing for six candidate genes (NKX2-5, ZIC3, NODAL, FOXH1, GJA1, GATA4) and had not revealed any reported CHD causative mutations. Whole-exome sequencing (WES) was performed on this family probond to determine the underlying cause of CHD, and the identified variants were confirmed and segregated by Sanger sequencing.
resultsWe identified one heterozygous missense mutation, c.T6797C (p.Phe2266Ser), in the NOTCH1 gene, which seems to be the most probably disease causing of this family patients. This mutation was found to be novel and not reported on 1000 Genomes Project, dbSNP, and ExAC.
conclusionWorldwide, mutations in NOTCH1 gene are considered as one of the most known causes of CHD. The found NOTCH1 variant in this family affected individuals was the first report from Iran. Yet again, this result indicates the importance of NOTCH1 screening in CHD patients.
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