以孤独症为主要表型的MYT1L基因突变嵌合体1例并文献复习  

MYT1L gene mutation chimerism with autism as the predominant phenotype:a case report and literature review

作　　者：李海贝 韩亮[1] 尚清[1] 高超[1] Li Haibei;Han Liang;Shang Qing;Gao Chao(Department of Rehabilitation Center,Children′s Hospital Affiliated to Zhengzhou University/Henan Children′s Hospital/Zhengzhou Children′s Hospital,Zhengzhou 450000,China)

机构地区：[1]郑州大学附属儿童医院/河南省儿童医院/郑州儿童医院康复中心,郑州450000

出　　处：《中华实用儿科临床杂志》2022年第1期57-60,共4页Chinese Journal of Applied Clinical Pediatrics

基　　金：国家自然科学基金(81774444);河南省自然科学基金(162300410326);河南省科技攻关计划项目(182102310403);河南省中医药科学研究专项重点课题(20-21ZY1072)。

摘　　要：对2019年4月河南省儿童医院康复医学科就诊的1例孤独症谱系障碍(ASD)的MYT1L基因突变患儿临床表型和基因型进行回顾性分析。对患儿进行全基因组测序及拷贝数异常(CNVs)检测,并复习相关文献。该患儿存在MYT1L基因15号外显子错义突变(c.2186T>G,p.Met729Arg),患儿为嵌合体,突变率约为10%,该突变未在父母及患儿哥哥中出现。检索到MYT1L相关基因异常报道共18篇文献,共53例患者(含本例),包括22种点突变及30例携带包含MYT1L基因区域在内的2p25.3染色体条带微缺失患者。患者孤独症行为发生率为45.0%(18/40例)、超重/肥胖发生率为70.2%(33/47例)、智力障碍/全面发育迟缓发生率为96.2%(51/53例),嵌合体的症状相对较轻。提示MYT1L基因是ASD重要的易感基因,但嵌合体的症状较轻。ASD患儿共患肥胖或超重时应警惕可能存在MYT1L基因突变,可进行基因检测协助诊断并注意嵌合体存在的可能性,本研究扩大了ASD基因突变谱。The clinical phenotypes and genotypes of a child with autism spectrum disorder(ASD)concomitant with MYT1L gene mutation were analyzed retrospectively,who was admitted to the Department of Rehabilitation Medicine of Henan Children′s Hospital in April 2019.Whole genome sequencing and copy number variations detection were performed on the child and relevant articles about MYT1L mutation were subjected to a literature review.It was found that this child had a missense mutation of MYT1L gene(c.2186T>G,p.Met729Arg)in 15 exon and was in a state of chimera,with about 10%of the mutation rate.This mutation was not identified in the parents and brother of this patient.A total of 18 reports of MYT1L-related genetic abnormalities were retrieved,including 53 patients in total(including this case),including 22 patients with point mutations and 30 patients containing MYT1L gene region with 2p25.3 chromosomal microdeletions.The incidence of autism was 45.0%(18/40 cases),that of overweight/obesity was 70.2%(33/47 cases)and that of dysnoesia/hypoevolutism was 96.2%(51/53 cases).However,chimeras had relatively mild symptoms.It indicates that the mutation of MYT1L is an important risk factor of ASD,but chimeras have mild symptoms.The children with ASD who are obese or overweight should be alerted to the possible presence of MYT1L mutation,and genetic testing can be performed to confirm the diagnosis and the possibility of chimerism.The spectrum of genetic mutations in ASD was expanded in this study.

关 键 词：孤独症 MYT1L基因 肥胖 超重 

分 类 号：R725.9[医药卫生—儿科]