LARP7基因复合杂合变异所致1例Alazami综合征患者的临床及遗传学分析  

Clinical and genetic analysis of a child with Alazami syndrome due to compound heterozygous variants of LARP7 gene

作　　者：袁琳 赵澎[1] 盛倩倩[1] 牟苇杭 徐刚[1] 刘健 Yuan Lin;Zhao Peng;Sheng Qianqian;Mu Weihang;Xu Gang;Liu Jian(Department of Rehabilitation,Tianjin Children′s Hospital,Tianjin 300134,China)

机构地区：[1]天津市儿童医院康复科,天津300134

出　　处：《中华医学遗传学杂志》2023年第7期860-864,共5页Chinese Journal of Medical Genetics

基　　金：天津市医学重点学科(专科)建设项目(TJYXZDXK-040A)。

摘　　要：目的分析1例Alazami综合征(AS)患儿的临床表型及遗传学病因。方法以2021年6月15日就诊于天津市儿童医院的1例患儿作为研究对象。对其进行全外显子组测序(WES)分析,并对候选变异进行Sanger测序家系验证。结果WES检测提示患儿携带LARP7基因存在c.429_430delAG(p.Arg143Serfs*17)及c.1056_1057delCT(p.Leu353Glufs*7)移码变异,经Sanger测序验证分别遗传自其父母。结论LARP7基因c.429_430delAG及c.1056_1057delCT变异可能为该患儿的致病原因。Objective To analyze the clinical phenotype and genetic basis of a child with Alazami syndrome(AS).Methods A child who presented at Tianjin Children′s Hospital on June 15,2021 was selected as the study subject.The child was subjected to whole exome sequencing(WES),and candidate variants were verified by Sanger sequencing.Results WES revealed that the child has harbored two frameshifting variants of the LARP7 gene,namely c.429_430delAG(p.Arg143Serfs*17)and c.1056_1057delCT(p.Leu353Glufs*7),which were verified by Sanger sequencing to be respectively inherited from his father and mother.Conclusion The compound heterozygous variants of the LARP7 gene probably underlay the pathogenesis in this child.

关 键 词：Alazami综合征 LARP7基因 全外显子组测序 

分 类 号：R725.9[医药卫生—儿科]