title: Novel point mutation in the NKX2-5 gene in a Moroccan family with atrioventricular conduction disturbance and an atrial septal defect in the oval fossa.
abstract: Defects of the oval fossa usually occur as isolated malformations, but can show an autosomal dominant pedigree in familial cases. Several mutations have been described for the transcription factor NKX2-5, and co-segregate with varied cardiac anomalies. We have identified by sequence analysis a novel missense heterozygous mutation in the NKX2-5 gene, specifically a substitution of glutamine for proline at codon 160, in a Moroccan family, the affected members having a deficiency of the floor of the oval fossa and atrioventricular block.
authors.affiliation: Department of Medical Genetics, National Institute of Health, Rabat, Morocco. laila.rifai@gmail.com
authors.forename: Laïla
authors.initials: L
authors.lastname: Rifai
authors.forename: Wajih
authors.initials: W
authors.lastname: Maazouzi
authors.forename: Abdelaziz
authors.initials: A
authors.lastname: Sefiani
mesh_terms: D000293:Adolescent; D001283:Atrioventricular Node / Q000503:physiopathology*; D006329:Heart Conduction System / Q000503:physiopathology*; D006344:Heart Septal Defects, Atrial / Q000235:genetics* / Q000503:physiopathology; D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009018:Morocco; D010375:Pedigree; D017354:Point Mutation; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins; C095552:NKX2-5 protein, human; D014157:Transcription Factors