Floriani Maiara A, Santos Andressa S, Diniz Bruna L, Glaeser Andressa B, Gazzola Zen Paulo R, Machado Rosa Rafael F
Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, Brazil.
Underdegree Program in Biomedicine, UFCSPA, Porto Alegre, Brazil.
Mol Syndromol. 2023 Feb;14(1):1-10. doi: 10.1159/000525247. Epub 2022 Jul 4.
Congenital heart disease (CHD) is the most common type of congenital defect reported to be one of the leading causes of mortality in the first year of life. Microdeletion and microduplication syndromes (MMS) are associated with cardiac malformations. Understanding which genetic factors are involved in these conditions directly impacts treatment decisions. We aimed to identify the occurrence of genetic alterations and their association with MMS in CHD pediatric patients evaluated in a reference service of Southern Brazil.
Participants were recruited during 2010 in the intensive care unit of a pediatric hospital. MMs and regions of chromosome 22 were screened by SALSA MLPA Probemix P245 Microdeletion Syndromes-1A kit for detection of copy number variations (CNVs).
MMS were detected in 11 from 207 patients (5.3%). Heterozygous deletion in the 22q11.2 chromosome region was the most prevalent CNV (5 from 11 patients). Also, atypical deletion and 22q11.2 duplication were detected. MLPA was able to reveal microdeletions in and genes in patients with a normal karyotype and FISH.
Our study reports the prevalence and variability of genomic alterations associated with MMS in CHD pediatric patients. The results by MLPA are of great help in planning and specialized care.
先天性心脏病（CHD）是最常见的先天性缺陷类型，据报道是一岁以内婴儿死亡的主要原因之一。微缺失和微重复综合征（MMS）与心脏畸形有关。了解这些疾病涉及哪些遗传因素直接影响治疗决策。我们旨在确定巴西南部一家参考医疗机构评估的先天性心脏病儿科患者中基因改变的发生率及其与微缺失和微重复综合征的关联。
2010年在一家儿科医院的重症监护病房招募参与者。使用SALSA MLPA Probemix P245微缺失综合征-1A试剂盒对微缺失和微重复综合征以及22号染色体区域进行筛查，以检测拷贝数变异（CNV）。
207例患者中有11例（5.3%）检测到微缺失和微重复综合征。22q11.2染色体区域的杂合缺失是最常见的拷贝数变异（11例患者中有5例）。此外，还检测到非典型缺失和22q11.2重复。MLPA能够在核型和荧光原位杂交正常的患者中揭示某些基因的微缺失。
我们的研究报告了先天性心脏病儿科患者中与微缺失和微重复综合征相关的基因组改变的患病率和变异性。MLPA的结果对规划和专业护理有很大帮助。
