{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,3]],"date-time":"2025-12-03T17:17:42Z","timestamp":1764782262952,"version":"build-2065373602"},"reference-count":13,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2020,10,22]],"date-time":"2020-10-22T00:00:00Z","timestamp":1603324800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Objective: To report the first de novo missense mutation in the SYT2 gene causing distal hereditary motor neuropathy. Methods: Genetic testing was carried out, including clinical exome sequencing for the proband and Sanger sequencing for the proband and his parents. We described the clinical and electrophysiological features found in the patient. Results: We reported a proband with a new de novo missense mutation, c.917C&gt;T (p.Ser306Leu), in the C2B domain of SYT2. The clinical presentation was similar to that of phenotypes described in previous studies. A notable feature in our study was normal electrophysiological testing results of the patient. Conclusions: In this study we reinforced the association between SYT2 mutations and distal hereditary motor neuropathy. We also described the clinical presentation of the patient carrying this pathogenic variant and provided unusual results of electrophysiological testing. The results showed that a diagnosis of SYT2-associated neuropathy should be based on the similarity of clinical manifestations, rather than the results of electrophysiological testing.<\/jats:p>","DOI":"10.3390\/genes11111238","type":"journal-article","created":{"date-parts":[[2020,10,22]],"date-time":"2020-10-22T20:51:00Z","timestamp":1603399860000},"page":"1238","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Identification of a Novel de Novo Variant in the SYT2 Gene Causing a Rare Type of Distal Hereditary Motor Neuropathy"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0351-1271","authenticated-orcid":false,"given":"Olga","family":"Mironovich","sequence":"first","affiliation":[{"name":"Federal State Budgetary Institution \u201cResearch Centre For Medical Genetics\u201d, Moscow 115478, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Dadali","sequence":"additional","affiliation":[{"name":"Federal State Budgetary Institution \u201cResearch Centre For Medical Genetics\u201d, Moscow 115478, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergey","family":"Malmberg","sequence":"additional","affiliation":[{"name":"Federal State Budget Healthcare Institution \u201cCentral Children Clinical Hospital\u201d at FMBA of Russia, Moscow 115409, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatyana","family":"Markova","sequence":"additional","affiliation":[{"name":"Federal State Budgetary Institution \u201cResearch Centre For Medical Genetics\u201d, Moscow 115478, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oxana","family":"Ryzhkova","sequence":"additional","affiliation":[{"name":"Federal State Budgetary Institution \u201cResearch Centre For Medical Genetics\u201d, Moscow 115478, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aleksander","family":"Poliakov","sequence":"additional","affiliation":[{"name":"Federal State Budgetary Institution \u201cResearch Centre For Medical Genetics\u201d, Moscow 115478, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,10,22]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1226","DOI":"10.1212\/WNL.0000000000003772","article-title":"Genetic heterogeneity of motor neuropathies","volume":"88","author":"Bansagi","year":"2017","journal-title":"Neurology"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1136\/jnnp-2011-300952","article-title":"The distal hereditary motor neuropathies","volume":"83","author":"Rossor","year":"2011","journal-title":"J. Neurol. Neurosurg. Psychiatr."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1016\/j.ajhg.2014.08.007","article-title":"Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy","volume":"95","author":"Herrmann","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"e282","DOI":"10.1212\/NXG.0000000000000282","article-title":"Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype","volume":"4","author":"Guan","year":"2018","journal-title":"Neurol. 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Neurosci."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1038\/gim.2016.190","article-title":"Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): A policy statement of the American College of Medical Genetics and Genomics","volume":"19","author":"Kalia","year":"2016","journal-title":"Genet. 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