A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family |
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| Authors: | Binghao Wang Xiaobo Li Shunxiang Huang Huadong Zhao Jun Liu Zhengmao Hu Zhiqiang Lin Lei Liu Yongzhi Xie Qingwen Jin Huihui Zhao Beisha Tang Qi Niu Ruxu Zhang |
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| Affiliation: | 1. Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China;2. Department of Radiology, The Third Xiangya Hospital, Central South University, Changsha, China;3. Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China;4. Health Management Center, The Third Xiangya Hospital, Central South University, Changsha, China;5. Department of Neurology, The Affiliated Sir Run Run Hospital of Nanjing Medical University, Nanjing, China;6. Department of Geriatric Neurology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China;7. National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China |
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| Abstract: | Distal hereditary motor neuropathy (dHMN) is a clinically and genetically heterogeneous group of inherited neuropathies characterized by distal limb muscle wasting and weakness with no or minimal sensory abnormalities. To investigate the clinical and genetic features of dHMN caused by WARS mutations in mainland China, we performed Sanger sequencing of the coding and untranslated region (UTR) regions of WARS in 160 unresolved dHMN and Charcot-Marie-Tooth (CMT) index patients. We detected a novel heterozygous variant c.941A>G (p.Asp314Gly) of WARS in an index patient from an autosomal dominant dHMN family including five affected members over three generations. The variant completely co-segregates with the dHMN phenotype in the family, and it was classified as likely pathogenic according to the American College of Medical Genetics and Genomics standards and guidelines. The clinical features included juvenile to adult onset (15-23 years), distal wasting and weakness, minimal sensory disturbance and length-dependent motor axonal degeneration with CMT examination score ranging from 6 to 10. Our report further confirms the role of WARS in dHMN and indicates that the variant c.941A>G (p.Asp314Gly) of WARS is related to a mild to moderate affected and later onset phenotype of dHMN. |
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| Keywords: | distal hereditary motor neuropathy hTrpRS novel mutation phenotype WARS |
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