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A Novel Mutation of GARS in a Chinese Family With Distal Hereditary Motor Neuropathy Type V

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机构： [1]Department of Neurology, China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China, [2]Key Laboratory of the Ministry of Education for Medicinal Resources and Natural Pharmaceutical Chemistry, National Engineering Laboratory for Resource Development of Endangered Crude Drugs in Northwest of China, College of Life Sciences, Shaanxi Normal University, Xi’an, China

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关键词： dHMN-V CMT2D Novel mutation GARS gene silico analysis

摘要：

Glycyl-tRNA synthetase (GARS) gene mutations have been reported to be associated with Charcot-Marie-Tooth disease 2D and distal hereditary motor neuropathy type V (dHMN-V). In this study, we report a novel GARS mutation in a Chinese family with dHMN-V. Clinical, electromyogram, genetic, and functional data were explored. The proband was an 11-year-old girl presented with progressive distal limb muscle weakness and atrophy due to peripheral motor neuropathy for 1 year. Another five members from three successive generations of the family showed similar symptoms during their first to second decades and demonstrated an autosomal dominant inheritance. The results of genetic testing revealed a novel c.383T>G mutation in the GARS gene in the affected individuals, showing apparent genetic cosegregation. Further bioinformatic analyses showed that the c.383T > G mutation resulted in L128R alteration in the second functional protein domain, and the mutation site was well conserved among different species. In silico analysis predicted that this mutation probably affected protein function. In vitro, this GARS mutation led to a different protein localization pattern than that of the wild-type enzyme. The study found a novel GARS mutation of c.383T > G causing dHMN-V with subcellular localization abnormity in a genetic cosegregation family. These findings broaden the mutational spectrum of GARS.

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出版当年[2017]版：

大类 | 2 区医学

小类 | 3 区临床神经病学 3 区神经科学

最新[2025]版：

大类 | 3 区医学

小类 | 3 区临床神经病学 3 区神经科学

JCR分区：

出版当年[2016]版：

Q2 CLINICAL NEUROLOGY Q2 NEUROSCIENCES

最新[2024]版：

Q2 CLINICAL NEUROLOGY Q3 NEUROSCIENCES

影响因子： 2.8 最新[2024版] 3.3 最新五年平均 3.552 出版当年[2016版] 0 出版当年五年平均 3.184 出版前一年[2015版] 3.508 出版后一年[2017版]

第一作者：

第一作者机构： [1]Department of Neurology, China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China,

通讯作者：

通讯机构： [1]Department of Neurology, China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China, [2]Key Laboratory of the Ministry of Education for Medicinal Resources and Natural Pharmaceutical Chemistry, National Engineering Laboratory for Resource Development of Endangered Crude Drugs in Northwest of China, College of Life Sciences, Shaanxi Normal University, Xi’an, China

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