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.
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.
Rifai
Laïla
L
Department of Medical Genetics, National Institute of Health, Rabat, Morocco. laila.rifai@gmail.com
Maazouzi
Wajih
W
Sefiani
Abdelaziz
A
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*
D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins; C095552:NKX2-5 protein, human; D014157:Transcription Factors