16p11.2微缺失综合征研究进展

Advances in 16p11.2 microdeletion syndrome

16p11.2微缺失综合征是一种与多系统异常相关的拷贝数变异性疾病,临床表现复杂多样,包括神经发育障碍(智力发育障碍、语言障碍、孤独症谱系障碍等)、神经系统发作性疾病(癫痫、发作性运动诱发性运动障碍等)、肥胖、先天畸形等,患病率约为(2.8~4.3)/10万。发病机制是16p11.2近端区域两侧各有一段低拷贝重复序列,生殖细胞在减数分裂过程中不同位置低拷贝重复序列通过非等位同源重组机制介导重排。该病目前尚缺乏精准治疗。该文对16p11.2微缺失综合征的发病机制、分类、临床表现等方面进行综述,以助于该综合征的机制研究、早期诊断、全面评估、康复干预及生育指导。

The 16p11.2 microdeletion syndrome is a copy number variant disease associated with multi-system abnormalities.Its clinical manifestations are complex and diverse,including neurodevelopmental disorders(intellectual development disorders,language delay,autism spectrum disorders,etc.),neurological paroxysmal disorders(epilepsy,paroxysmal kinesigenic dyskinesia,etc.),obesity,congenital malformations,etc.The prevalence is approximately 2.8 to 4.3 per 100000 births.The pathogenesis is that there is a low copy repeat sequence on both sides of the proximal region of 16p11.2,and that the low copy repeat sequence at different positions in the germ cell during meiosis is rearranged through the non-allelic homologous recombination.At present,there is a lack of precise treatment.This article reviews the pathogenesis,classification,and clinical manifestations of 16p11.2 microdeletion syndrome,aiming to provide assistance for the mechanism research,early diagnosis,comprehensive evaluation,rehabilitation intervention,and fertility guidance of this syndrome.