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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

Published online by Cambridge University Press:  22 December 2006

Laïla Rifai ,
Wajih Maazouzi  and
Abdelaziz Sefiani
Laïla Rifai
Affiliation:
Department of Medical Genetics, National Institute of Health, Rabat, Morocco
Wajih Maazouzi
Affiliation:
Department of Cardiovascular Surgery, Ibn Sina Hospital, Rabat, Morocco
Abdelaziz Sefiani
Affiliation:
Department of Medical Genetics, National Institute of Health, Rabat, Morocco
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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.

Keywords

Congenital cardiopathymutation detectionmolecular biology
Type
Brief Report
Information
Cardiology in the Young , Volume 17 , Issue 1 , February 2007 , pp. 107 - 109
Copyright
2007 Cambridge University Press

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