{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:26:30Z","timestamp":1745468790746,"version":"3.40.4"},"reference-count":15,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"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":["Mol Syndromol"],"published-print":{"date-parts":[[2024]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Introduction:&lt;\/i&gt;&lt;\/b&gt; UV-sensitive syndrome and Cockayne syndrome (CS) are rare autosomal recessive and transcription-coupled nucleotide excision repair disorders with different clinical manifestations, although some types are allelic. &lt;b&gt;&lt;i&gt;Case Presentation:&lt;\/i&gt;&lt;\/b&gt; We report on a patient who passed away at 15 years old with a progeroid-like appearance, cachexia, hearing loss, and dental anomalies, which led us to the diagnosis of Cockayne-like progeroid syndromes. Our clinical exome sequencing including all the known genes of progeroid syndromes revealed a homozygous stop-gain variant in the &lt;i&gt;UVSSA&lt;\/i&gt; gene. &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; Although truncating variants in the &lt;i&gt;UVSSA &lt;\/i&gt;are known to cause UVsS3, their association with CS has not yet been defined. This case might be the first report of a CS-like phenotype caused by a defective &lt;i&gt;UVSSA&lt;\/i&gt;. <\/jats:p>","DOI":"10.1159\/000536420","type":"journal-article","created":{"date-parts":[[2024,2,23]],"date-time":"2024-02-23T22:00:31Z","timestamp":1708725631000},"page":"324-327","source":"Crossref","is-referenced-by-count":0,"title":["A Cockayne-Syndrome-Like Phenotype with a Homozygous Truncating &lt;i&gt;UVSSA &lt;\/i&gt;Variant: Might This Be a New Cause?"],"prefix":"10.1159","volume":"15","author":[{"given":"Yusuf","family":"Bahap","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gulsum","family":"Kayhan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2024,2,23]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-104877"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21154"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.mad.2013.02.006"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33933"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2019.08.003"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.47391\/JPMA.03-476"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2229"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2228"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1186\/gm343"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1007\/s00412-013-0420-2"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroscience.2007.03.015"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.01037-06"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016\/j.arr.2005.06.008"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0902113106"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/msy\/article-pdf\/15\/4\/324\/4262343\/000536420.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/msy\/article-pdf\/15\/4\/324\/4262343\/000536420.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:07:18Z","timestamp":1745424438000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000536420"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024]]},"references-count":15,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2024,8,7]]},"published-print":{"date-parts":[[2024,8,6]]}},"URL":"https:\/\/doi.org\/10.1159\/000536420","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"type":"print","value":"1661-8769"},{"type":"electronic","value":"1661-8777"}],"subject":[],"published":{"date-parts":[[2024]]}}}