Karunanithi Zarmiga, Vestergaard Else Marie, Lauridsen Mette H
Department of Cardiothoracic and Vascular Surgery, Aarhus University Hospital, Aarhus N 8200, Denmark.
Department of Clinical Genetics, Aarhus University Hospital, Aarhus N 8200, Denmark.
World J Cardiol. 2017 Dec 26;9(12):848-852. doi: 10.4330/wjc.v9.i12.848.
Genetic analyses of patients with transposition of the great arteries have identified rare copy number variations, suggesting that they may be significant to the aetiology of the disease. This paper reports the identification of a 16p11.2 microduplication, a variation that has yet to be reported in association with transposition of the great arteries. The 16p11.2 microduplication is associated with autism spectrum disorder and developmental delay, but with highly variable phenotypic effects. Autism and attention deficit disorders are observed more frequently in children with congenital heart disease than in the general population. Neonatal surgery is proposed as a risk factor, but as yet unidentified genetic abnormalities should also be taken into account. Thus, congenital heart abnormalities may constitute a part of the phenotypic spectrum associated with duplications at 16p11.2. We suggest chromosomal microarray be considered part of the diagnostic work-up in patients with transposition of the great arteries.
对大动脉转位患者的基因分析已鉴定出罕见的拷贝数变异，提示它们可能对该疾病的病因具有重要意义。本文报告了一例16p11.2微重复的鉴定结果，该变异此前尚未见与大动脉转位相关的报道。16p11.2微重复与自闭症谱系障碍和发育迟缓有关，但表型效应高度可变。先天性心脏病患儿中自闭症和注意力缺陷障碍的发生率高于一般人群。新生儿手术被认为是一个风险因素，但尚未明确的基因异常也应予以考虑。因此，先天性心脏异常可能构成与16p11.2重复相关的表型谱的一部分。我们建议，对于大动脉转位患者，应考虑将染色体微阵列作为诊断检查的一部分。
