{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T17:30:06Z","timestamp":1787765406547,"version":"build-2784847793"},"reference-count":14,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2022]]},"abstract":"<jats:p>Spinal muscular atrophy, X-linked 2 (SMAX2) is a rare type of spinal muscular atrophy characterized by muscle weakness, hypotonia, areflexia, myopathic face, tongue fibrillations, contractures, bone fractures, and cryptorchidism. Variants of the &lt;i&gt;UBA1&lt;\/i&gt; gene lead to SMAX2. The &lt;i&gt;UBA1&lt;\/i&gt; gene encodes a protein that activates the ubiquitin pathway which is responsible for protein degradation. Here, we describe a family presenting with hypotonia, muscle weakness, areflexia, contractures, weak cry, in association with other anomalies including myopathic face, scoliosis, tongue fibrillations, and cryptorchidism. Molecular analysis in 2 patients revealed a hemizygous pathogenic variant in the &lt;i&gt;UBA1&lt;\/i&gt; gene (NM_153280.3, NP_695012.1: c.1731C&amp;#x3e;T [p.Asn577Asn]) inherited from their carrier mothers. Our study presents the first patients from Turkey, widening the phenotypic spectrum of SMAX2 by pectus carinatum, medullary sponge kidney, and frontal cyst. <\/jats:p>","DOI":"10.1159\/000519640","type":"journal-article","created":{"date-parts":[[2022,2,4]],"date-time":"2022-02-04T22:00:36Z","timestamp":1644012036000},"page":"246-253","source":"Crossref","is-referenced-by-count":6,"title":["X-Linked Spinal Muscular Atrophy 2 due to a Synonymous Variant in the &lt;b&gt;&lt;i&gt;UBA1&lt;\/i&gt;&lt;\/b&gt; Gene in a Family with Novel Findings from Turkey"],"prefix":"10.1159","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8558-7901","authenticated-orcid":false,"given":"\u00d6zden","family":"\u00d6zt\u00fcrk","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00fc\u015fra Eser","family":"\u00c7avdartepe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haydar","family":"Ba\u011f\u0131\u015f","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2022,2,4]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1006\/nbdi.1996.0010"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.02.001"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1053\/j.semtcvs.2009.03.001"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkp860"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1988.02150020119045"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.7.1213"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3789"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90460-3"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0032835"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510x(95)00284-9"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1111\/cns.12860"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.87908"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.09.009"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1172\/JCI71318"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/519640","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/519640","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:27:10Z","timestamp":1745422030000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000519640"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022]]},"references-count":14,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2022,5,2]]},"published-print":{"date-parts":[[2022,4,26]]}},"URL":"https:\/\/doi.org\/10.1159\/000519640","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022]]}}}