{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T03:06:12Z","timestamp":1761102372479,"version":"3.40.5"},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,5,27]],"date-time":"2019-05-27T00:00:00Z","timestamp":1558915200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100010083","name":"Hunan Provincial Innovation Foundation for Postgraduate","doi-asserted-by":"publisher","award":["CX2018B120"],"award-info":[{"award-number":["CX2018B120"]}],"id":[{"id":"10.13039\/501100010083","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81771366"],"award-info":[{"award-number":["81771366"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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 <jats:italic>WARS<\/jats:italic> mutations in mainland China, we performed Sanger sequencing of the coding and untranslated region (UTR) regions of <jats:italic>WARS<\/jats:italic> in 160 unresolved dHMN and Charcot\u2010Marie\u2010Tooth (CMT) index patients. We detected a novel heterozygous variant c.941A&gt;G (p.Asp314Gly) of <jats:italic>WARS<\/jats:italic> in an index patient from an autosomal dominant dHMN family including five affected members over three generations. The variant completely co\u2010segregates 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\u201023\u2009years), distal wasting and weakness, minimal sensory disturbance and length\u2010dependent motor axonal degeneration with CMT examination score ranging from 6 to 10. Our report further confirms the role of <jats:italic>WARS<\/jats:italic> in dHMN and indicates that the variant c.941A&gt;G (p.Asp314Gly) of <jats:italic>WARS<\/jats:italic> is related to a mild to moderate affected and later onset phenotype of dHMN.<\/jats:p>","DOI":"10.1111\/cge.13563","type":"journal-article","created":{"date-parts":[[2019,5,9]],"date-time":"2019-05-09T08:47:38Z","timestamp":1557391658000},"page":"176-182","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["A novel <i>WARS<\/i> mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family"],"prefix":"10.1111","volume":"96","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9801-4475","authenticated-orcid":false,"given":"Binghao","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Neurology The Third Xiangya Hospital, Central South University  Changsha 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China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qingwen","family":"Jin","sequence":"additional","affiliation":[{"name":"Department of Neurology The Affiliated Sir Run Run Hospital of Nanjing Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huihui","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Geriatric Neurology The First Affiliated Hospital of Nanjing Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beisha","family":"Tang","sequence":"additional","affiliation":[{"name":"National Clinical Research Center for Geriatric Disorders Central South University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qi","family":"Niu","sequence":"additional","affiliation":[{"name":"Department of Geriatric Neurology The First Affiliated Hospital of Nanjing Medical University  Nanjing 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