LAMA2基因突变致先天性肌营养不良1例

A Case of Congenital Muscular Dystrophy Caused by LAMA2 Gene Mutation

摘要: LAMA2基因突变致先天性肌营养不良(Congenital Muscular Dystrophy, CMD)是一种罕见的常染色体隐性遗传病，占所有先天性肌营养不良的1/3，其典型的临床表现为出生不久出现的全身严重肌无力、肌张力低下、运动发育落后、关节挛缩等，同时可伴脑白质病变，本文报告了一例女性患者，因“全身无力18年，发作性肢体抽搐伴强直5年”入院。入院后完善基因检测提示LAMA2基因的2个变异，在基因LAMA2上发生c.2049_2050del移码突变和c.4351T > A错义突变的复合杂合突变，进一步进行一代验证，其父为c.4351T > A杂合突变，其母为c.2049_2050del杂合突变，符合常染色体隐性遗传方式，为其家族提供优生优育指导。

Abstract: Congenital Muscular Dystrophy (CMD) caused by LAMA2 gene mutation is a rare autosomal occult Sexual genetic diseases account for one-third of all congenital muscular dystrophy. Its typical clinical manifestations are shortly after birth. Severe general muscle weakness, low muscle tone, lagging motor development, joint contracture, etc., and can be accompanied by cerebral white matter lesions. This article reports a female patient who was hospitalized for "general weakness for 18 years, paroxysmal limb convulsions with 5 years of tonicity". After admission, the improvement of genetic testing suggested two mutations of the LAMA2 gene, and the complex hybrid mutation of c.2049_2050del transcoding mutation and c.4351T > a representation mutation occurred on the gene LAMA2, and further verified for a generation. Its father is c.4351T > a hybrid mutation Change, its mother is c.2049_2050del hybrid mutation, which conforms to the autosomal recessive inheritance mode and provides eugenic guidance for its family.