{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T06:27:16Z","timestamp":1790749636019,"version":"4.1.0"},"reference-count":19,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2020,1,8]],"date-time":"2020-01-08T00:00:00Z","timestamp":1578441600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2020,1,8]]},"abstract":"<jats:p>Pathogenic variants in the Glycyl-tRNA synthetase gene cause the allelic disorders Charcot-Marie-Tooth disease type 2D and distal hereditary motor neuropathy type V. We describe clinical features in 8 unrelated patients found to have Glycyl-tRNA synthetase variants by Next Generation Sequencing. In addition to upper limb predominant symptoms, other presentations included failure to thrive, feeding difficulties and lower limb dominant symptoms. Variability in the age at testing ranged from 14 months to 59 years. The youngest being symptomatic from 3 months and ventilator-dependent. Sequence variants were reported as pathogenic, p.(Glu125Lys), p.(His472Arg); likely pathogenic, p.(His216Arg), p.(Gly327Arg), p.(Lys510Gln), p.(Met555Val); and of uncertain significance, p.(Arg27Pro). Our case series describes novel Glycyl-tRNA synthetase variants and demonstrates the clinical utility of Next Generation Sequencing testing for patients with hereditary neuropathy. Identification of novel variants by Next Generation Sequencing illustrates that there exists a wide spectrum of clinical features and supports the newer simplified classification of neuropathies.<\/jats:p>","DOI":"10.3233\/jnd-200472","type":"journal-article","created":{"date-parts":[[2020,1,24]],"date-time":"2020-01-24T12:26:39Z","timestamp":1579868799000},"page":"137-143","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":18,"title":["Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (\n                    <i>GARS<\/i>\n                    ) Variants"],"prefix":"10.1177","volume":"7","author":[{"given":"Natalie","family":"Forrester","sequence":"first","affiliation":[{"name":"Bristol Genetics Laboratory, North Bristol Trust, Bristol, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rohini","family":"Rattihalli","sequence":"additional","affiliation":[{"name":"John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Horvath","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Maggi","sequence":"additional","affiliation":[{"name":"Istituto Neurologico Carlo Besta, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adnan","family":"Manzur","sequence":"additional","affiliation":[{"name":"Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geraint","family":"Fuller","sequence":"additional","affiliation":[{"name":"Gloucester Royal Infirmary, Gloucestershire Hospitals NHS Foundation Trust, Gloucester, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas","family":"Gutowski","sequence":"additional","affiliation":[{"name":"Peninsula Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Rankin","sequence":"additional","affiliation":[{"name":"Peninsula Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Dick","sequence":"additional","affiliation":[{"name":"Norfolk and Norwich University Hospital, Norwich, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Buxton","sequence":"additional","affiliation":[{"name":"Bristol Genetics Laboratory, North Bristol Trust, Bristol, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Greenslade","sequence":"additional","affiliation":[{"name":"Bristol Genetics Laboratory, North Bristol Trust, Bristol, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anirban","family":"Majumdar","sequence":"additional","affiliation":[{"name":"University Hospitals Bristol NHS Foundation Trust, Bristol, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2020,1,24]]},"reference":[{"key":"ref001","unstructured":"BirdTD. Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview [Internet]. Seattle: GeneReviews\u00ae; 1993\u20132019 [updated 2019 Jan 24; cited 2019 July 26]. Available from: www.ncbi.nlm.nih.gov\/books\/NBK1358\/"},{"key":"ref002","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(98)00264-0"},{"key":"ref003","doi-asserted-by":"publisher","DOI":"10.1086\/375039"},{"key":"ref004","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22681"},{"key":"ref005","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-015-0224-8"},{"key":"ref006","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"#cr-split#-ref007.1","unstructured":"EllardS, BapleEL, OwensM, CannonS, EcclesDM, AbbsS, et al. ACGS Best Practice Guidelines for Variant Classification 2019 [Internet]. UK: ACGS [updated 2019 May 6"},{"key":"#cr-split#-ref007.2","unstructured":"cited 2019 July 26]. 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