Floriani Maiara A, Glaeser Andressa B, Dorfman Luiza E, Agnes Grasiela, Rosa Rafael F M, Zen Paulo R G
Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil.
Molecular Biology Laboratory, Universidade Federal de Ciências da Saúde de Porto Alegre, Rio Grande do Sul, Brazil.
J Pediatr Genet. 2021 Jun;10(2):92-97. doi: 10.1055/s-0040-1714691. Epub 2020 Jul 29.
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. , , , , and 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 deletion (1%) and one had a 22q11.2 duplication (0.5%). No patients with CNVs in the , , , and genes were identified. 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. screening seems to be more effective when directed to these CHDs. The investigation of CNVs in and 22q11 chromosome region in patients with CHD is important to anticipating the diagnosis, and to contributing to family planning.
心脏的正常发育包括由转录因子参与的高度调控的基因事件机制。先天性心脏病（CHD）与染色体异常和拷贝数变异（CNV）有关。我们的目标是通过多重连接依赖探针扩增（MLPA）技术，研究CHD患者心脏正常发育相关参考基因中CNV的存在情况。对一家儿科医院心脏重症监护病房首次收治的207例CHD患儿的、、、、基因以及22q11.2染色体区域进行了分析。在7例患者（3.4%）中检测到CNV：4例有22q11.2缺失（22q11DS）（1.9%），2例有缺失（1%），1例有22q11.2重复（0.5%）。未发现、、、基因存在CNV的患者。缺失似乎在大量CHD患者中存在，尤其是那些有室间隔缺损、永存左上腔静脉、肺动脉异常和心脏外表现的患者。针对这些CHD进行筛查似乎更有效。对CHD患者的和22q11染色体区域的CNV进行研究对于提前诊断以及计划生育都很重要。
