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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

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Gioli-Pereira, Luciana [1] ; Pereira, Alexandre Costa [2] ; Mesquita, Sonia M. [1] ; Xavier-Neto, Jose [1] ; Lopes, Antonio Augusto [1] ; Krieger, Jose Eduardo [1]
Total Authors: 6
[1] Univ Sao Paulo, Sch Med, Div Pediat Cardiol, Heart Inst, InCor, BR-05403000 Sao Paulo - Brazil
[2] Univ Sao Paulo, Sch Med, Lab Genet & Cardiol Mol, InCor, HCFMUSP, BR-05403000 Sao Paulo - Brazil
Total Affiliations: 2
Document type: Journal article
Source: INTERNATIONAL JOURNAL OF CARDIOLOGY; v. 138, n. 3, p. 261-265, FEB 4 2010.
Web of Science Citations: 33

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. (AU)

FAPESP's process: 01/00009-0 - An integrated approach for the dissection of primary hypertension: molecular and functional characterization of the cardiovascular system
Grantee:Eduardo Moacyr Krieger
Support type: Research Projects - Thematic Grants