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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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References

Garg V, Kathiriya IS, Barnes R, et al. GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 2003; 424: 443–447.Google Scholar
Pikkarainen S, Tokola H, Kerkela R, Ruskoaho H. GATA transcription factors in the developing and adult heart. Cardiovasc Res 2004; 63: 196–207.Google Scholar
Schott JJ, Benson DW, Basson CT, et al. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 1998; 281: 108–111.Google Scholar
Watanabe Y, Benson DW, Yano S, Akagi T, Yoshino M, Murray JC. Two novel frameshift mutations in NKX2-5 result in novel features including visceral inversus and sinus venosus type ASD. J Med Genet 2002; 39: 807–811.Google Scholar
Benson DW, Silberbach GM, Kavanaugh-McHugh A, et al. Mutations in the cardiac transcription factor NKX2-5 affect diverse cardiac developmental pathways. J Clin Invest 1999; 104: 1567–1573.Google Scholar
McElhinney DB, Geiger E, Blinder J, Benson DW, Goldmuntz E. NKX2-5 mutations in patients with congenital heart disease. J Am Coll Cardiol 2003; 42: 1650–1655.Google Scholar
Goldmuntz E, Geiger E, Benson DW. NKX2.5 mutations in patients with tetralogy of Fallot. Circulation 2001; 104: 2565–2568.Google Scholar
Biben C, Weber R, Kesteven S, et al. Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene NKX2-5. Circ Res 2000; 87: 888–895.Google Scholar
Kasahara H, Benson DW. Biochemical analyses of eight NKX2.5 homeodomain missense mutations causing atrioventricular block and cardiac anomalies. Cardiovasc Res 2004; 64: 40–51.Google Scholar
Elliott DA, Kirk EP, Yeoh T, et al. Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome. J Am Coll Cardiol 2003; 41: 2072.Google Scholar