Journal
INTERNATIONAL JOURNAL OF CARDIOLOGY
Volume 138, Issue 3, Pages 261-265Publisher
ELSEVIER IRELAND LTD
DOI: 10.1016/j.ijcard.2008.08.035
Keywords
NKX2.5; Congenital heart disease; Mutation; Human
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Funding
- Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP) [01/00009-0, 04/08693-6]
- Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP) [01/00009-0] Funding Source: FAPESP
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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. (C) 2008 Elsevier Ireland Ltd. All rights reserved.
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