{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:25:35Z","timestamp":1745468735899,"version":"3.40.4"},"reference-count":0,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Hered"],"published-print":{"date-parts":[[2023]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Introduction:&lt;\/i&gt;&lt;\/b&gt; Spinocerebellar ataxia (SCA) is an autosomal dominant genetic disease characterized by cerebellar neurological deficits. Specifically, its primary clinical manifestation is ataxia accompanied by peripheral nerve damage. A total of 48 causative genes of SCA have been identified. This study aimed to identify causative genes of autosomal dominant SCA in a four-generation Chinese kindred comprising eight affected individuals. &lt;b&gt;&lt;i&gt;Methods:&lt;\/i&gt;&lt;\/b&gt; Genomic DNA samples were extracted from the pedigree members, and genomic whole-exome sequencing was performed, followed by bidirectional Sanger sequencing, and minigene assays to identify mutation sites. &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; A novel pathogenic heterozygous mutation in the splice region of the coiled-coil domain containing the 88C (&lt;i&gt;CCDC88C&lt;\/i&gt;) gene (NM_001080414:c.3636-4 A&amp;gt;G) was identified in four affected members. The minigene assay results indicated that this mutation leads to the insertion of CAG bases (c.3636-1_3636-3 insCAG). &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; &lt;i&gt;CCDC88C&lt;\/i&gt; gene mutation leads to SCA40 (OMIM:616053), which is a rare subtype of SCA without symptoms during childhood. Our findings further demonstrated the role of the &lt;i&gt;CCDC88C&lt;\/i&gt; gene in SCA and indicated that the c.3636-4 A&amp;gt;G (NM_001080414) variant of &lt;i&gt;CCDC88C&lt;\/i&gt; is causative for a later-onset phenotype of SCA40. Our findings enrich the mutation spectrum of &lt;i&gt;CCDC88C&lt;\/i&gt; gene and provide a theoretical basis for the genetic counseling of SCA40. <\/jats:p>","DOI":"10.1159\/000534692","type":"journal-article","created":{"date-parts":[[2023,10,27]],"date-time":"2023-10-27T21:02:04Z","timestamp":1698440524000},"page":"91-97","source":"Crossref","is-referenced-by-count":0,"title":["A Novel c.3636-4 A&amp;gt;G Mutation in the &lt;i&gt;CCDC88C&lt;\/i&gt; Plays a Causative Role in Familial Spinocerebellar Ataxia"],"prefix":"10.1159","volume":"88","author":[{"given":"Senmao","family":"Chai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deyang","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yajing","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ming","family":"Sang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2023,10,27]]},"container-title":["Human Heredity"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/hhe\/article-pdf\/88\/1\/91\/4125616\/000534692.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/hhe\/article-pdf\/88\/1\/91\/4125616\/000534692.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:49:40Z","timestamp":1745423380000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000534692"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023]]},"references-count":0,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2023,12,22]]}},"URL":"https:\/\/doi.org\/10.1159\/000534692","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.24449473","asserted-by":"subject"}]},"ISSN":["0001-5652","1423-0062"],"issn-type":[{"type":"print","value":"0001-5652"},{"type":"electronic","value":"1423-0062"}],"subject":[],"published":{"date-parts":[[2023]]}}}