{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T11:46:02Z","timestamp":1791978362754,"version":"4.4.0"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,6,17]],"date-time":"2024-06-17T00:00:00Z","timestamp":1718582400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,6,17]],"date-time":"2024-06-17T00:00:00Z","timestamp":1718582400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Neurol"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Mutations in the SLC5A7 gene cause congenital myasthenia, a rare genetic disorder. Mutation points in the SLC5A7 gene differ among individuals and encompass various genetic variations; however, exon deletion variants have yet to be reported in related cases. This study aims to explore the clinical phenotype and genetic traits of a patient with congenital myasthenic syndrome due to SLC5A7 gene variation and those of their family members.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We describe a case of a Chinese male with congenital myasthenic syndrome presenting fluctuating limb weakness. Genetic testing revealed a heterozygous deletion mutation spanning exons 1\u20139 in the SLC5A7 gene. QPCR confirmed a deletion in exon 9 of the SLC5A7 gene in the patient\u2019s mother and brother. Clinical symptoms of myasthenia improved following treatment with pyridostigmine.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Exons 1, 5, and 9 of the SLC5A7 gene encode the choline transporter\u2019s transmembrane region. Mutations in these exons can impact the stability and plasma membrane levels of the choline transporter. Thus, a heterozygous deletion in exons 1\u20139 of the SLC5A7 gene could be the pathogenic cause for this patient. In patients exhibiting fluctuating weakness, positive RNS, and seronegativity for myasthenia gravis antibodies, a detailed family history should be considered, and enhanced genetic testing is recommended to determine the cause.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12883-024-03716-x","type":"journal-article","created":{"date-parts":[[2024,6,17]],"date-time":"2024-06-17T07:01:46Z","timestamp":1718607706000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Genetic analysis of a family affected by congenital myasthenic syndrome due to a Novel mutation in the SLC5A7 gene"],"prefix":"10.1186","volume":"24","author":[{"given":"Sheng","family":"Tian","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huan","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fen-Fang","family":"Gao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kang","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Nan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mu","family":"Niu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao","family":"Jia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gang","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-6982-6500","authenticated-orcid":false,"given":"Wei","family":"Ge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,6,17]]},"reference":[{"key":"3716_CR1","doi-asserted-by":"publisher","unstructured":"Vlckova M, Prchalova D, Zimmermann P, et al. A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation. Mol Genet Genomic Med. 2023;e2154. https:\/\/doi.org\/10.1002\/mgg3.2154.","DOI":"10.1002\/mgg3.2154"},{"key":"3716_CR2","doi-asserted-by":"publisher","unstructured":"Ohno K, Ohkawara B, Shen XM, et al. Clinical and pathologic features of congenital myasthenic syndromes caused by 35 Genes-A Comprehensive Review. Int J Mol Sci. 2023;24(4). https:\/\/doi.org\/10.3390\/ijms24043730.","DOI":"10.3390\/ijms24043730"},{"key":"3716_CR3","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddac309","author":"M Rizvi","year":"2023","unstructured":"Rizvi M, Truong TK, Zhou J, et al. Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome. Hum Mol Genet. 2023. https:\/\/doi.org\/10.1093\/hmg\/ddac309.","journal-title":"Hum Mol Genet"},{"key":"3716_CR4","doi-asserted-by":"publisher","unstructured":"Rodr\u00edguez Cruz PM, Palace J, Beeson D. The Neuromuscular Junction and wide heterogeneity of congenital myasthenic syndromes. Int J Mol Sci. 2018;19(6). https:\/\/doi.org\/10.3390\/ijms19061677.","DOI":"10.3390\/ijms19061677"},{"key":"3716_CR5","doi-asserted-by":"publisher","unstructured":"Finsterer J. Congenital myasthenic syndromes. Orphanet journal of rare diseases 2019, 14 (1): 57. https:\/\/doi.org\/10.1186\/s13023-019-1025-5.","DOI":"10.1186\/s13023-019-1025-5"},{"issue":"11","key":"3716_CR6","doi-asserted-by":"publisher","first-page":"2838","DOI":"10.1093\/brain\/awx249","volume":"140","author":"H Wang","year":"2017","unstructured":"Wang H, Salter CG, Refai O, et al. Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization. Brain: J neurology. 2017;140(11):2838\u201350. https:\/\/doi.org\/10.1093\/brain\/awx249.","journal-title":"Brain: J neurology"},{"issue":"2","key":"3716_CR7","doi-asserted-by":"publisher","first-page":"e222","DOI":"10.1212\/nxg.0000000000000222","volume":"4","author":"CG Salter","year":"2018","unstructured":"Salter CG, Beijer D, Hardy H, et al. Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies. Neurol Genetics. 2018;4(2):e222. https:\/\/doi.org\/10.1212\/nxg.0000000000000222.","journal-title":"Neurol Genetics"},{"issue":"3","key":"3716_CR8","doi-asserted-by":"publisher","first-page":"753","DOI":"10.1016\/j.ajhg.2016.06.033","volume":"99","author":"S Bauch\u00e9","year":"2016","unstructured":"Bauch\u00e9 S, O\u2019Regan S, Azuma Y, et al. Impaired Presynaptic High-Affinity Choline Transporter causes a congenital myasthenic syndrome with episodic apnea. Am J Hum Genet. 2016;99(3):753\u201361. https:\/\/doi.org\/10.1016\/j.ajhg.2016.06.033.","journal-title":"Am J Hum Genet"},{"issue":"6","key":"3716_CR9","doi-asserted-by":"publisher","first-page":"1103","DOI":"10.1016\/j.ajhg.2012.09.019","volume":"91","author":"KE Barwick","year":"2012","unstructured":"Barwick KE, Wright J, Al-Turki S, et al. Defective presynaptic choline transport underlies hereditary motor neuropathy. Am J Hum genetics. 2012;91(6):1103\u20137. https:\/\/doi.org\/10.1016\/j.ajhg.2012.09.019.","journal-title":"Am J Hum genetics"},{"key":"3716_CR10","doi-asserted-by":"publisher","unstructured":"Vlckova M, Prchalova D, Zimmermann P et al. A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation. 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Nat Reviews Neuroscience. 2005;6(1):48\u201356. https:\/\/doi.org\/10.1038\/nrn1588.","journal-title":"Nat Reviews Neuroscience"}],"container-title":["BMC Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-024-03716-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12883-024-03716-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-024-03716-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,17]],"date-time":"2024-06-17T07:02:24Z","timestamp":1718607744000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcneurol.biomedcentral.com\/articles\/10.1186\/s12883-024-03716-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,17]]},"references-count":12,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["3716"],"URL":"https:\/\/doi.org\/10.1186\/s12883-024-03716-x","relation":{},"ISSN":["1471-2377"],"issn-type":[{"value":"1471-2377","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,17]]},"assertion":[{"value":"29 February 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 June 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 June 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The studies involving humans were approved by the Ethics Committee of the Affiliated Hospital of Xuzhou Medical University. The studies were conducted in accordance with the local legislation and institutional requirements. The participants provided their written informed consent to participate in this study. Written informed consent was obtained from the individual(s) for the publication of any potentially identifiable images or data included in this article.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"206"}}