【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。更多还原

【Abstract】 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.更多还原