{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:11Z","timestamp":1772160071849,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,10,7]],"date-time":"2022-10-07T00:00:00Z","timestamp":1665100800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["20K17942"],"award-info":[{"award-number":["20K17942"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    <jats:italic>SGCE<\/jats:italic>\n                    myoclonus\u2010dystonia is a monogenic form of dystonia with an autosomal dominant mode of inheritance that co\u2010occurs with a myoclonic jerk. In this study, we present 12 Japanese patients from nine families with this disease. Targeted next\u2010generation sequencing covering major causative genes for monogenic dystonias identified nine distinct\n                    <jats:italic>SGCE<\/jats:italic>\n                    mutations from each of the families: three nonsense, two frameshift, two missense, one in\u2010frame 15\u2009bp deletion, and one splice donor site mutations, of which four were previously unreported. One missense mutation (c.662G&gt;T, p.Gly221Val) was located at the 3\u2032 end of exon 5 (NM_001099400), which was predicted to cause aberrant splicing according to in silico predictions. Minigene assays performed together with the c.825+1G&gt;C mutation demonstrated complete skipping of exon 5 and 6, respectively, in their transcripts. The other missense (c.1345A&gt;G, p.Met449Val) and 15\u2009bp deletion (c.168_182del, p.Phe58_Leu62del) mutations showed a significant reduction in cell membrane expression via HiBiT bioluminescence assay. Therefore, we concluded that all the detected mutations were disease\u2010causing. Unlike the other detected mutations, p.Met449Val affects only isoform 3 (NP_001092870 encoded by NM_001099400) among the variously known isoforms of SGCE. This isoform is brain\u2010specific and is mostly expressed in the cerebellum, which supports recent studies showing that cerebellar dysfunction is a key element in the pathophysiology of\n                    <jats:italic>SGCE<\/jats:italic>\n                    myoclonus\u2010dystonia.\n                  <\/jats:p>","DOI":"10.1111\/cge.14233","type":"journal-article","created":{"date-parts":[[2022,9,26]],"date-time":"2022-09-26T03:49:50Z","timestamp":1664164190000},"page":"209-213","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Loss\u2010of\u2010function mutations in\n                    <scp>\n                      <i>SGCE<\/i>\n                    <\/scp>\n                    found in Japanese patients with myoclonus\u2010dystonia"],"prefix":"10.1111","volume":"103","author":[{"given":"Kenko","family":"Azuma","sequence":"first","affiliation":[{"name":"Institute for Comprehensive Medical Sciences Tokyo Women's Medical University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shiro","family":"Horisawa","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Tokyo Women's Medical University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hideaki","family":"Mashimo","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics Tokyo Metropolitan Neurological Hospital  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitsumasa","family":"Fukuda","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics Tokyo Metropolitan Neurological Hospital  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoko","family":"Kumada","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics Tokyo Metropolitan Neurological Hospital  Tokyo 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