遗传性对称性色素异常症伴发育迟缓一个家系的ADAR基因变异分析  

Analysis of ADAR gene variants in a Chinese pedigree affected with Dyschromatosis symmetrica hereditaria in conjunct with developmental delay

作　　者：张瑜[1] 陈铮[1] 王建东 位广帅 牛杰朝 王瑶 王怀立[1] Zhang Yu;Chen Zheng;Wang Jiandong;Wei Guangshuai;Niu Jiechao;Wang Yao;Wang Huaili(Henan Provincial Key Laboratory for Pediatric Epilepsy and Immunomedicine,Henan Provincial Clinical Diagnosis and Treatment Center for Children′s Neurological Diseases,Children′s Hospital of the First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450052,China)

机构地区：[1]郑州大学第一附属医院儿童医院,河南省儿童癫痫与免疫医学重点实验室,河南省儿童神经系统疾病临床诊治中心,郑州450052

出　　处：《中华医学遗传学杂志》2024年第5期591-595,共5页Chinese Journal of Medical Genetics

基　　金：河南省科技攻关省部共建重点项目(SBGJ202102109)。

摘　　要：目的探讨1个遗传性对称性色素异常症(DSH)伴发育迟缓家系的临床特点及基因变异特点。方法选择2021年5月28日因"四肢末端皮肤色素异常伴生长发育落后2年余"就诊于郑州大学第一附属医院儿科的1例患儿及其家系成员(共3代11人)作为研究对象,收集相关的临床资料。对患儿进行全外显子组测序,并对候选变异进行Sanger测序家系验证。结果患儿为2岁7月龄男性,手足以及颜面部对称分布绿豆大小的色素脱失斑和雀斑样色素沉着,其生长发育较同龄儿落后。其家系成员具有DSH的典型表现。基因检测显示患儿及其母亲、大姐均携带ADAR基因第8外显子c.2657G>A杂合变异。根据美国医学遗传学与基因组学学会相关指南,c.2657G>A变异被评级为可能致病性变异(PM1+PM2_Supporting+PP1+PP3)。结论ADAR基因c.2657G>A变异可能是该DSH家系的遗传学病因。Objective To explore the clinical characteristics and genetic etiology for a Chinese pedigree affected with Dyschromatosis symmetrica hereditaria(DSH)in conjunct with developmental delay.Methods A child who had presented at the First Affiliated Hospital of Zhengzhou University on May 282021 for abnormal skin pigmentation of the extremities and growth retardation for over 2 years was selected as the study subject.Clinical data of the child and his pedigree(11 individuals from three generations)was collected.The child was subjected to whole exome sequencing,and candidate variant was verified by Sanger sequencing.Results The child,a two-year-and-seven-month-old male,had hyper-and hypopigmentation on his hands,feet and face,in addition with delayed development.All members of his pedigree had typical presentation of DSH.A heterozygous c.2657G>A variant was found in exon 8 of the ADAR gene in the child,his mother,and elder sister.Based on the guidelines from the American College of Medical Genetics and Genomics(ACMG),the variant was predicted as likely pathogenic(PM1+PM2_Supporting+PP1+PP3).Conclusion The c.2657G>A variant of the ADAR gene probably underlay the DSH in this pedigree.

关 键 词：遗传性对称性色素异常症 发育迟缓 ADAR基因 基因变异 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]