遗传性包涵体肌病一例GNE突变的检测

Identification of a novel mutation in GNE gene of hereditary inclusion body myopathy

目的:研究一例近亲结婚导致的遗传性包涵体肌病(HIBM)家系表型和基因型特点。方法:收集一例常染色体隐性遗传性肌病患者,应用目标捕获测序技术对该患者家系人员进行致病基因筛查。结果:该患者以四肢近端肌进行性无力为首发症状,电生理检查提示肌源性损害;基因检测结果显示GNE基因发生c.C577T(p.Arg193Cys)纯合错义突变;其父母均为GNE基因c.C577T(p.Arg193Cys)杂合携带者;该突变在家系内同疾病表型共分离,并且在200例正常对照人群中未被发现。结论:目标捕获测序技术可用于HIBM的诊断;c.C577T为一个新的GNE基因变异。

Aim： To analyze the phenotypic and genotypic characteristics in a consanguineous family presented with hereditary inclusion body myopathy（ HIBM）. Methods： The clinical data of an autosomal recessive myopathy pedigree were collected,and target capture sequencing technology was used to identify the pathogenic gene mutation. Results： The patient in the pedigree presented proximal limb muscles weakness as the first symptom,electrophysiological examination suggested a myogenic damage,and genetic testing results show a homozygous missense mutation c. C577T（ p. Arg193Cys）;the parents were both heterozygous for the c. C577T（ p. Arg193Cys） mutation. The GNE gene mutation was co-segregated with the phenotype in the pedigree and was not detected in 200 normal control subjects. Conclusion： A novel GNE gene mutation is identified and target captare sequencing method is helpful for the diagnosis of HIBM.