LAMA2基因变异致新生儿期发病的先天性肌营养不良1例报告  

Congenital muscular dystrophy caused by LAMA2 gene mutation in neonates: a case report

作　　者：陈亿仙 谭建强[2] 吕彦兴 韦义军 蒋永江 韦拔 CHEN Yixian;TAN Jianqiang;LYU Yanxing;WEI Yijun;JIANG Yongjiang;WEI Ba(Department of Neonatology,Liuzhou Maternity and Child Health Hospital,Affiliated Maternity Hospital and Affiliated Children′s Hospital of Guangxi University of Science and Technology,Liuzhou 545000,China)

机构地区：[1]柳州市妇幼保健院、广西科技大学附属妇产医院、儿童医院新生儿科,柳州545000 [2]柳州市妇幼保健院、广西科技大学附属妇产医院、儿童医院儿童保健科,柳州545000

出　　处：《中国中西医结合儿科学》2023年第3期221-224,共4页Chinese Pediatrics of Integrated Traditional and Western Medicine

基　　金：广西壮族自治区卫生健康委员会自筹经费科研课题(Z20190364)。

摘　　要：目的探讨LAMA2基因变异致先天性肌营养不良患儿的临床表现、实验室检查及对基因检测结果进行分析。方法回顾分析1例新生儿期发病的先天性1A型肌营养不良(MDC1A)患儿的临床资料,并对患儿核心家系进行LAMA2基因突变检测。结果患儿,男性,6个月,生后出现肌张力下降、关节活动受限、喂养困难,实验室检查显示肌酸肌酶显著升高,高通量测序及Sanger测序验证发现LAMA2基因存在两处杂合变异,一个是来自母亲的无义突变c.4048C>T,另一个突变是来自父亲的剪接突变c.3556-13T>A。随访时存在生长发育落后,反复呼吸道感染。结论本例患儿LAMA2基因c.4048C>T及c.3556-13T>A变异可能是导致发生先天性肌营养不良的致病原因。Objective To explore the clinical manifestations,laboratory examination and genetic test results analysis of children with congenital muscular dystrophy caused by LAMA2 gene mutation.Methods The clinical data of a child with congenital muscular dystrophy type 1A(MDC1A)were reviewed and the familial LAMA2 mutation was analyzed.Results The child,male,6 months,had decreased muscle tone,limited joint movement and feeding difficulties after birth.Laboratory examination showed a significant increase in creatine myase,and two heterozygous changes of LAMA2 gene were verified by high-throughput sequencing and Sanger sequencing:one was the nonsense mutation c.4048C>T from the mother and the other was the splicing mutation c.3556-13T>A from the father.There were backward growth and development and repeated respiratory infections at follow-up.Conclusion The c.4048C>T and c.3556-13T>A of the LAMA2 may be the pathogenic causes of congenital muscular dystrophy.

关 键 词：先天性肌营养不良 LAMA2基因 高通量测序 新生儿 

分 类 号：R722.11[医药卫生—儿科]