Abstract: Objective To perform prenatal gene diagnosis on sporadic case with congenital muscular dystrophy(CMD). Method The clinical data of 1 patient with CMD and blood samples of the child and parents were collected,pathogenic genes were detected using gene sequencing. Results The child with the onset of after birth,appeared motor retardation,hypotonia,increased of serum creatine kinase.EMG showed myogenic damage.Cranial MRI showed that the bilateral frontal and temporal cerebral sulcus and subarachnoid space were wider.Gene sequencing revealed that the c.3735+2-3735+8delinsAAAGAAGGA gene LAMA2 homozygous mutated from the children's father.The genetic test confirmed the diagnosis of MDC1A. Conclusions If the child's clinical manifestations of motor retardation,increased creatine kinase and EMG showed myogenic damage,CMD should be promptly considered,and early genetic testing can confirm the diagnosis.

Key words: congenital muscular dystrophy, LAMA2, germline mosaicism, mutation, merosin

摘要： 目的 利用基因检测技术对拟诊先天性肌营养不良(CMD)患儿进行明确诊断,为CMD的早期诊断提供参考。方法 收集1例拟诊CMD患儿临床资料,采集患儿及父母血标本,采用基因测序检测致病基因。结果 该患儿于出生后发病,运动发育落后、肌张力降低,血清肌酸激酶升高,肌电图示肌源性损害,肌肉组织呈典型先天性肌营养不良样的病理改变,头颅MRI示双侧额颞部脑沟及蛛网膜下腔较宽。基因测序发现LAMA2基因c.3735+2-3735+8delinsAAAGAAGGA纯合剪切变异,来自于患儿父亲,经基因检测确诊为先天性肌营养不良1A型(MDC1A)。结论 若患儿临床表现为运动发育落后,肌酸激酶增高及肌电图提示肌源性损害应考虑CMD,可行基因检测以明确诊断。

关键词: 先天性肌营养不良, LAMA2基因, 生殖腺嵌合, 基因突变, 层黏连蛋白