关键词: 先天性肌营养不良, LAMA2基因, 高通量测序, 新生儿

Abstract: ObjectiveTo explore the clinical manifestations,laboratory examination and genetic test results analysis of children with congenital muscular dystrophy caused by LAMA2 gene mutation.MethodsThe clinical data of a child with congenital muscular dystrophy type 1A (MDC1A) were reviewed and the familial LAMA2 mutation was analyzed.ResultsThe 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.ConclusionThe c.4048C> T and c.3556-13T>A of the LAMA2 may be the pathogenic causes of congenital muscular dystrophy.

Key words:

Congenital muscular dystrophy, LAMA2 gene, High-throughput sequencing, Newborn