{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T22:06:48Z","timestamp":1770329208549,"version":"3.49.0"},"reference-count":8,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"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":[[2021]]},"abstract":"<jats:p>Goldberg-Shprintzen syndrome (GOSHS) is characterized by microcephaly, developmental delay, dysmorphic features, Hirschsprung disease (HSCR), and brain anomalies. The kinesin family binding protein (&lt;i&gt;KIFBP&lt;\/i&gt;; MIM 60937) gene has been identified as the responsible gene of the syndrome. To date, 16 different biallelic &lt;i&gt;KIFBP&lt;\/i&gt; mutations have been identified in 34 patients with GOSHS. Even though most of these mutations are nonsense and frameshift, 3 missense mutations have also been described. Here, we report an 18-month-old patient with microcephaly, developmental delay, dysmorphic features and HSCR. Exome analysis was performed to clarify the etiology of the clinical features. A previously unreported homozygous c.1723delC (p.H575Ifs*19) variant was detected in the last exon 7 of &lt;i&gt;KIFBP&lt;\/i&gt; which led to GOSHS. According to our findings, we suggest that this mutation expands mutational databases and contributes to the understanding of the phenotypic features of the syndrome. <\/jats:p>","DOI":"10.1159\/000514531","type":"journal-article","created":{"date-parts":[[2021,5,7]],"date-time":"2021-05-07T21:01:34Z","timestamp":1620421294000},"page":"240-243","source":"Crossref","is-referenced-by-count":6,"title":["Goldberg-Shprintzen Syndrome Associated with a Novel Variant in the &lt;b&gt;&lt;i&gt;KIFBP&lt;\/i&gt;&lt;\/b&gt;Gene"],"prefix":"10.1159","volume":"12","author":[{"given":"Pelin","family":"Ozyavuz Cubuk","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2021,5,7]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1086\/431244"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21581"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2019.00265"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36873"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt083"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24097"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1097\/01.mcd.0000204991.84861.c9"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/514531","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/514531","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:25:26Z","timestamp":1745425526000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000514531"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021]]},"references-count":8,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2021,7,16]]},"published-print":{"date-parts":[[2021,7,21]]}},"URL":"https:\/\/doi.org\/10.1159\/000514531","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021]]}}}