GATA4 Deletions Associated with Congenital Heart Diseases in South Brazil
| Autor: | Luiza E. Dorfman, Maiara A. Floriani, Grasiela Agnes, Andressa Barreto Glaeser, Paulo Ricardo Gazzola Zen, Rafael Fabiano Machado Rosa |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Heart disease GATA4 business.industry medicine.disease 03 medical and health sciences 030104 developmental biology 0302 clinical medicine 22q11 Deletion Syndrome Internal medicine embryonic structures Pediatrics Perinatology and Child Health Gene duplication cardiovascular system medicine Coronary care unit cardiovascular diseases 030212 general & internal medicine Multiplex ligation-dependent probe amplification Copy-number variation Persistent left superior vena cava business Genetics (clinical) |
| Zdroj: | J Pediatr Genet |
| ISSN: | 2146-460X 2146-4596 |
| Popis: | The normal development of the heart comprises a highly regulated machinery of genetic events, involving transcriptional factors. Congenital heart disease (CHD), have been associated with chromosomal abnormalities and copy number variants (CNVs). Our goal was to investigate through the multiplex ligation-dependent probe amplification (MLPA) technique, the presence of CNVs in reference genes for normal cardiac development in patients with CHD. GATA4, NKX2–5, TBX5, BMP4, and CRELD1 genes and 22q11.2 chromosome region were analyzed in 207 children with CHD admitted for the first time in a cardiac intensive care unit from a pediatric hospital. CNVs were detected in seven patients (3.4%): four had a 22q11.2 deletion (22q11DS) (1.9%), two had a GATA4 deletion (1%) and one had a 22q11.2 duplication (0.5%). No patients with CNVs in the NKX2–5, TBX5, BMP4, and CRELD1 genes were identified. GATA4 deletions appear to be present in a significant number of CHD patients, especially those with septal defects, persistent left superior vena cava, pulmonary artery abnormalities, and extracardiac findings. GATA4 screening seems to be more effective when directed to these CHDs. The investigation of CNVs in GATA4 and 22q11 chromosome region in patients with CHD is important to anticipating the diagnosis, and to contributing to family planning. |
| Databáze: | OpenAIRE |
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