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Int J Cardiol. 2010 Feb 4;138(3):261-5. doi: 10.1016/j.ijcard.2008.08.035. Epub 2008 Dec 14.

NKX2.5 mutations in patients with non-syndromic congenital heart disease.

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  • 1Laboratory of Genetics and Molecular Cardiology and Pediatric Cardiology Division, Heart Institute (InCor), Sao Paulo University Medical School, 05403-000 Sao Paulo, Brazil.

Abstract

BACKGROUND:

Cardiac development is a complex and multifactorial biological process. Heterozygous mutations in the transcription factor NKX2.5 are between the first evidence of a genetic cause for congenital heart defects in human beings. In this study, we evaluated the presence and frequency of mutations in the NKX2.5 gene on 159 unrelated patients with a diverse range of non-syndromic congenital heart defects (conotruncal anomalies, septal defects, left-sided lesions, right-sided lesions, patent ductus arteriosus and Ebstein's anomaly).

METHODS:

The coding region of the NKX2.5 locus was amplified by polymerase chain reaction and mutational analysis was performed using denaturing high performance liquid chromatography (DHPLC) and DNA sequencing.

RESULTS:

We identified two distinct mutations in the NKX2.5 coding region among the 159 (1.26%) individuals evaluated. An Arg25Cys mutation was identified in a patient with Tetralogy of Fallot. The second mutation found was an Ala42Pro in a patient with Ebstein's anomaly.

CONCLUSIONS:

The association of NKX2.5 mutations is present in a small percentage of patients with non-syndromic congenital heart defects and may explain only a few cases of the disease. Screening strategies considering the identification of germ-line molecular defects in congenital heart disease are still unwarranted and should consider other genes besides NKX2.5.

Copyright 2008 Elsevier Ireland Ltd. All rights reserved.

PMID:
19073351
[PubMed - indexed for MEDLINE]
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