X连锁α-地中海贫血精神发育迟滞综合征一个家系的临床及ATRX基因变异分析  

Analysis of clinical features and ATRX gene variant in a Chinese pedigree affected with X-linked alpha thalassemia mental retardation(ATR-X)syndrome

作　　者：董睿[1] 杨亚丽[2] 郭辉 高敏[1] 律玉强 李悦[1] 杨小萌[1] 刘毅[1] Dong Rui;Yang Yali;Guo Hui;Gao Min;Lyu Yuqiang;Li Yue;Yang Xiaomeng;Liu Yi(Institute of Pediatric Research,Children′s Hospital Affiliated to Shandong University,Jinan,Shandong 250022,China;Department of Physiatry,Children′s Hospital Affiliated to Shandong University,Jinan,Shandong 250022,China;Department of Pharmacy,Qilu Children′s Hospital of Shandong University,Jinan,Shandong 250022,China)

机构地区：[1]山东大学附属儿童医院儿科研究所,济南250022 [2]山东大学附属儿童医院康复科,济南250022 [3]山东大学齐鲁儿童医院药学部,济南250022

出　　处：《中华医学遗传学杂志》2023年第12期1508-1511,共4页Chinese Journal of Medical Genetics

基　　金：济南市医疗卫生科技创新计划(201907007)。

摘　　要：目的对1例表现为发育迟缓、特殊面容且具有阳性家族史的患儿进行临床和遗传学分析。方法以1例因"竖头不稳、不会翻身"于2020年就诊于山东大学附属儿童医院的患儿及其家庭作为研究对象。提取患儿及其父母及两个哥哥的基因组DNA,采用外显子区域捕获及高通量测序技术对其进行变异分析,对候选变异进行Sanger测序验证及家系分析。结果基因测序显示患儿及症状相似的哥哥均携带X染色体上的ATRX基因的c.5275C>A半合子变异,既往未见报道。经验证,其母亲为变异的杂合子携带者。患儿的父亲及未患病的哥哥均未携带上述变异。结论患儿及其患病的哥哥被确诊为罕见的X连锁α-地中海贫血精神发育迟滞综合征。c.5275C>A变异的发现丰富了ATRX基因的变异谱。Objective To explore the clinical characteristics and genetic basis of two brothers featuring X-linked alpha thalassemia mental retardation(ATR-X)syndrome.Methods An infant who had presented at the Qilu Children′s Hospital in 2020 for unstable upright head and inability to roll over and his family were selected as the study subjects.The clinical features of the child and one of his brothers were summarized,and their genomic DNA was subjected to targeted capture and next generation sequencing(NGS).Results The brothers had presented with mental retardation and facial dysmorphisms.NGS revealed that they had both harbored a hemizygous c.5275C>A variant of the ATRX gene located on X chromosome,which was inherited from their mother.Conclusion The siblings were diagnosed with ATR-X syndrome.The discovery of the c.5275C>A variant has enriched the mutational spectrum of theATRX gene.

关 键 词：X连锁α-地中海贫血精神发育迟滞综合征 发育迟缓 ATRX基因 

分 类 号：R725.9[医药卫生—儿科]