GATA 4 Deletions Associated with Congenital Heart Diseases in South Brazil.

摘要: The normal development of the heart comprises a highly regulated machinery genetic events, involving transcriptional factors. Congenital disease (CHD), have been associated with chromosomal abnormalities and copy number variants (CNVs). Our goal was to investigate through multiplex ligation-dependent probe amplification (MLPA) technique, presence CNVs in reference genes for cardiac patients CHD. GATA4 , NKX2-5 TBX5 BMP4 CRELD1 22q11.2 chromosome region were analyzed 207 children CHD admitted first time intensive care unit from pediatric hospital. detected seven (3.4%): four had deletion (22q11DS) (1.9%), two (1%) one duplication (0.5%). No identified. deletions appear be present significant patients, especially those septal defects, persistent left superior vena cava, pulmonary artery abnormalities, extracardiac findings. screening seems more effective when directed these CHDs. investigation 22q11 is important anticipating diagnosis, contributing family planning.