{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T08:28:23Z","timestamp":1790065703177,"version":"4.0.1"},"reference-count":19,"publisher":"MDPI AG","issue":"19","license":[{"start":{"date-parts":[[2024,10,9]],"date-time":"2024-10-09T00:00:00Z","timestamp":1728432000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ministry of Science and Higher Education of the Russian Federation","award":["075-15-2021-1061"],"award-info":[{"award-number":["075-15-2021-1061"]}]},{"name":"Ministry of Science and Higher Education of the Russian Federation","award":["193021X0029"],"award-info":[{"award-number":["193021X0029"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>We report a case of SYNE1-associated autosomal recessive spinocerebellar ataxia (SCAR8) presenting with a complex multisystemic phenotype, including highly elevated creatine kinase levels and lower-leg muscle atrophy. In addition to identifying two novel pathogenic variants in the SYNE1 gene, whole-exome sequencing revealed three variants of uncertain significance in the DYSF gene. Electromyography and muscle magnetic resonance imaging indicated a neurogenic pattern of muscle involvement. These findings, along with the segregation analysis of the variants, allowed us to exclude DYSF-associated muscular dystrophy; however, we cannot entirely rule out the possibility that the DYSF gene variants may act as modifiers of the patient\u2019s phenotype.<\/jats:p>","DOI":"10.3390\/ijms251910841","type":"journal-article","created":{"date-parts":[[2024,10,9]],"date-time":"2024-10-09T06:30:03Z","timestamp":1728455403000},"page":"10841","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Challenging Diagnosis of a Patient with Two Novel Variants in the SYNE1 Gene"],"prefix":"10.3390","volume":"25","author":[{"given":"Anna","family":"Kuchina","sequence":"first","affiliation":[{"name":"Research Centre for Medical Genetics, 115478 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7023-7378","authenticated-orcid":false,"given":"Aysylu","family":"Murtazina","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115478 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5871-8005","authenticated-orcid":false,"given":"Artem","family":"Borovikov","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115478 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-9862-0273","authenticated-orcid":false,"given":"Dmitrii","family":"Subbotin","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115478 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergey","family":"Bardakov","sequence":"additional","affiliation":[{"name":"Department of Neurology, S.M. Kirov Military Medical Academy, 194044 St. Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7244-9654","authenticated-orcid":false,"given":"Maria","family":"Akhkiamova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115478 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandra","family":"Nikolaeva","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115478 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4905-1303","authenticated-orcid":false,"given":"Olga","family":"Shchagina","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115478 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergey","family":"Kutsev","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115478 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,10,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1038\/ng1927","article-title":"Mutations in SYNE1 Lead to a Newly Discovered Form of Autosomal Recessive Cerebellar Ataxia","volume":"39","author":"Dion","year":"2007","journal-title":"Nat. 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Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"2816","DOI":"10.1093\/hmg\/ddm238","article-title":"Nesprin-1 and -2 Are Involved in the Pathogenesis of Emery\u2013Dreifuss Muscular Dystrophy and Are Critical for Nuclear Envelope Integrity","volume":"16","author":"Zhang","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1378","DOI":"10.1093\/brain\/aww079","article-title":"SYNE1 Ataxia Is a Common Recessive Ataxia with Major Non-Cerebellar Features: A Large Multi-Centre Study","volume":"139","author":"Synofzik","year":"2016","journal-title":"Brain J. Neurol."},{"key":"ref_7","doi-asserted-by":"crossref","unstructured":"Peng, Y., Ye, W., Chen, Z., Peng, H., Wang, P., Hou, X., Wang, C., Zhou, X., Hou, X., and Li, T. (2018). Identifying SYNE1 Ataxia With Novel Mutations in a Chinese Population. Front. 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