先天性肌营养不良1A型1例临床与基因分析

发布时间：2018-05-02 05:59

本文选题：先天性肌营养不良 + 临床特点　；参考：《临床儿科杂志》2017年05期

【摘要】：目的报道1例LAMA2基因变异导致先天性肌营养不良的临床、实验室检查及遗传学特点。方法回顾分析1例先天性肌营养不良1A型患儿的临床资料,并复习相关文献。结果患儿,男,5岁2个月,临床表现为运动发育落后,2岁时可独坐,不能独走;肌力及肌张力低下,早期出现关节挛缩。生化检测发现肌酸激酶(CK)升高(491 U/L),其同工酶CK-MB升高(41.8 U/L);肌电图提示肌源性损害可能;头颅MRI提示大脑白质异常信号。基因检测发现LAMA2存在复杂杂合突变,c.2045-2046del AG杂合缺失,来自母亲,为已报道的致病变异;exon5存在杂合缺失,来自父亲,为未报道的新变异,软件功能预测提示为致病性变异。结论 LAMA2基因变异导致先天性肌营养不良,患儿以运动发育落后起病,CK升高,高通量基因检测有助于明确诊断。
[Abstract]:Objective to report the clinical, laboratory and genetic features of congenital muscular dystrophy caused by LAMA2 gene mutation. Methods A case of congenital muscular dystrophy type 1A was retrospectively analyzed and related literature was reviewed. Results the children were 5 years old and 2 months old. The clinical manifestation was that they could sit alone and not walk alone at the age of 2 years old, the muscle strength and muscle tension were low, and the joint contracture appeared in the early stage. Biochemical examination showed that creatine kinase (CK) increased by 491U / L, and its isoenzyme CK-MB increased by 41.8U / L; electromyogram indicated that myogenic damage might occur; and MRI of the head indicated abnormal signal in the white matter of the brain. Gene analysis showed that LAMA2 had complex heterozygous mutation, I. e. 2045-2046del AG heterozygosity deletion, from mother, heterozygosity deletion from reported pathogenicity mutation exon5, from father, new mutation not reported, and software function prediction indicated pathogenicity mutation. Conclusion LAMA2 gene mutation may lead to congenital muscular dystrophy and increase CK in children with dystrophy. High throughput gene detection is helpful for diagnosis.
【作者单位】：单县海吉亚医院儿科;
【分类号】：R746.2

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