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