ITGA7基因变异致先天性肌病1例报告并文献复习  

Rare congenital myopathy caused by ITGA7 gene variation:a case report and literature review

作　　者：孙莹[1] 王春霞[1] 李磊[2] 段丽芬[1] 王惠萍[1] 王左华 张霞 SUN Ying;WANG Chunxia;LI Lei;DUAN Lifen;WANG Huiping;WANG Zuohua;ZHANG Xia(Department of Neurology,Kunming Children’s Hospital,Kunming 650000,Yunnan,China;Department of Neuroelectrophysiological Center,Kunming Children’s Hospital,Kunming 650000,Yunnan,China)

机构地区：[1]昆明市儿童医院神经内科,云南昆明650000 [2]昆明市儿童医院神经电生理中心,云南昆明650000

出　　处：《临床儿科杂志》2021年第12期948-951,共4页Journal of Clinical Pediatrics

基　　金：云南省王艺专家工作站(No.2019IC050);昆明市卫生健康委卫生科研课题(No.2019-06-01-031)。

摘　　要：目的探讨整合素α7(ITGA 7)基因变异致罕见先天性肌病的临床特征。方法回顾分析1例确诊的ITGA7基因变异致先天性肌病患儿的临床资料,并复习相关文献。结果患儿,男,10岁9个月。5岁时起病,以下蹲困难、轻度跟腱挛缩为主要表现,无明显肌无力及认知损害,病情进展慢;血肌酸激酶轻度增高,肌电图示部分肌肉肌源性损害。全外显子测序发现患儿ITGA7基因存在c.1100dupG纯合移码变异,受检者父母该位点均为杂合子,美国医学遗传学与基因组学会(ACMG)评分为PVS 1,PM2,PP 5,为致病性变异。结论ITGA 7基因变异相关肌病轻重不一,轻者进展缓慢,以运动发育落后及步态异常为主要表现,重者起病早,进展快,以肌无力为主要表现,但所有患者肌酶均仅为轻度增高或正常。Objective To investigate the clinical characteristics of rare congenital myopathy caused by integrin alpha-7(ITGA7)gene variation.Methods The clinical data of a child with congenital myopathy caused by ITGA7 gene variation was analyzed retrospectively,and the relevant literature were reviewed.Results A 10 years and 9 months old boy developed the disease when he was 5 years old,and the main manifestations were squatting difficulties and mild achilles tendon contracture,without obvious muscle weakness and cognitive impairment,and the disease progressed slowly.Serum creatine kinase was slightly elevated and the electromyography suggested myogenic damage in some muscles.Whole exon sequencing revealed that homozygous frameshift variation of c.1100dupG was found in ITGA 7 gene,and both parents were heterozygous at this locus.The scores of American College of Medical Genetics and Genomics(ACMG)were PVS 1,PM2 and PP5,indicating its pathogenicity.Conclusions The myopathy associated with ITGA 7 gene variation varies in severity.In mild cases,the progression was slow,and the main manifestations were motor development retardation and abnormal gait.Severe cases have early onset and rapid progression,with muscle weakness as the main manifestation.Serum creatine kinase were only slightly increased or normal in all patients.

关 键 词：ITGA 7基因 整合素α7 先天性肌病 

分 类 号：R726.8[医药卫生—儿科]