{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T19:47:03Z","timestamp":1791229623255,"version":"4.1.0"},"reference-count":11,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2024,8,13]],"date-time":"2024-08-13T00:00:00Z","timestamp":1723507200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2024,8,13]],"date-time":"2024-08-13T00:00:00Z","timestamp":1723507200000},"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"],"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Introduction:&lt;\/i&gt;&lt;\/b&gt; Sandestig-Stefanova syndrome (MIM:618804) is characterized by pre- and postnatal microcephaly, trigonocephaly, bilateral congenital cataracts, microphthalmia, cleft lip and palate or high-arched palate, camptodactyly, rocker-bottom feet, heart anomalies, periventricular white matter loss, thin corpus callosum, and delayed myelination. Bi-allelic loss-of-function variants in the &lt;i&gt;Nucleoporin 188 (NUP188)&lt;\/i&gt; (MIM:615587) gene are implicated in the etiology. &lt;b&gt;&lt;i&gt;Case Presentation:&lt;\/i&gt;&lt;\/b&gt; Our patient, born to consanguineous parents, presented with tetralogy of Fallot, bilateral congenital cataracts, hydrocephalus, a bifid uvula, a right pelvic kidney, hepatomegaly, facial feature findings, and a history of a similarly affected ex-sibling. Whole exome sequence analysis in the index case revealed a novel homozygous variant NM_015354.2: c.124C&amp;gt;T\/p.(Arg42Ter) in the &lt;i&gt;NUP188&lt;\/i&gt; gene. &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; This study describes a new patient with Sandestig-Stefanova syndrome harboring a novel pathogenic variant in the &lt;i&gt;NUP188&lt;\/i&gt; gene. <\/jats:p>","DOI":"10.1159\/000540314","type":"journal-article","created":{"date-parts":[[2024,8,13]],"date-time":"2024-08-13T21:01:15Z","timestamp":1723582875000},"page":"1-8","source":"Crossref","is-referenced-by-count":2,"title":["A Novel Truncating Variant in Sandestig-Stefanova Syndrome with Hydrocephalus"],"prefix":"10.1159","author":[{"given":"G\u00fclnihal","family":"Bulut","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2573-6431","authenticated-orcid":false,"given":"G\u00f6zde Tutku","family":"Turgut","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00fcven","family":"Toksoy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Umut","family":"Altuno\u011flu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ay\u00e7a Dilruba","family":"Aslanger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zehra Oya","family":"Uyguner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birsen","family":"Karaman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2024,8,13]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.str.2009.07.014"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.03.009"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1159\/000504818"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1019645108"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1159\/000521331"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200912045"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.3389\/fmolb.2023.1278976"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2016.08.002"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.116.001443"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.76"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1159\/000525275"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/msy\/article-pdf\/doi\/10.1159\/000540314\/4265989\/000540314.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/msy\/article-pdf\/doi\/10.1159\/000540314\/4265989\/000540314.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:30:41Z","timestamp":1745422241000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000540314"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,13]]},"references-count":11,"URL":"https:\/\/doi.org\/10.1159\/000540314","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.26246927","asserted-by":"subject"}]},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,8,13]]}}}