NKX2.5 mutations in patients with non-syndromic congenital heart disease
| Autor: | Antonio Augusto Lopes, Sonia M Mesquita, Luciana Gioli-Pereira, José Xavier-Neto, José Eduardo Krieger, Alexandre C. Pereira |
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| Rok vydání: | 2010 |
| Předmět: |
medicine.medical_specialty
Heart disease DNA Mutational Analysis Locus (genetics) Disease Bioinformatics Polymerase Chain Reaction law.invention Denaturing high performance liquid chromatography law Ductus arteriosus Internal medicine medicine Humans Point Mutation Amino Acid Sequence Ductus Arteriosus Patent Gene Polymerase chain reaction Tetralogy of Fallot Homeodomain Proteins business.industry Heart Septal Defects medicine.disease Ebstein Anomaly medicine.anatomical_structure Homeobox Protein Nkx-2.5 cardiovascular system Cardiology Cardiology and Cardiovascular Medicine business Hand Deformities Congenital Transcription Factors |
| Zdroj: | International Journal of Cardiology. 138:261-265 |
| ISSN: | 0167-5273 |
| Popis: | 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 . |
| Databáze: | OpenAIRE |
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