{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T23:55:58Z","timestamp":1789516558444,"version":"build-2803163510"},"reference-count":10,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"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":[[2020]]},"abstract":"<jats:p>Renpenning syndrome is an X-linked intellectual disability syndrome caused by mutations in the human polyglutamine binding protein 1 (&lt;i&gt;PQBP1&lt;\/i&gt;) gene characterized by intellectual disability (ID), microcephaly, and dysmorphic facial features. We report a Turkish child with a novel pathogenic variant in &lt;i&gt;PQBP1&lt;\/i&gt; and a likely pathogenic variant in the &lt;i&gt;PACS1&lt;\/i&gt; gene presenting with growth restriction, microcephaly, ID, micropenis, bilateral iris coloboma, and hypogammaglobulinemia. Cytogenetic investigations, including a high-resolution-banded karyotype, were normal. Clinical exome sequencing was performed. We found the novel &lt;i&gt;PQBP1&lt;\/i&gt; variant, c.640C&gt;T; p.(Arg214Trp), and the known &lt;i&gt;PACS1&lt;\/i&gt; variant, c.607C&gt;T; p.(Arg203Trp), in the proband. The patient's hypogammaglobulinemia did not respond to treatment. This condition was detected for the first time in a patient with Renpenning syndrome.<\/jats:p>","DOI":"10.1159\/000507562","type":"journal-article","created":{"date-parts":[[2020,4,17]],"date-time":"2020-04-17T21:00:31Z","timestamp":1587157231000},"page":"157-161","source":"Crossref","is-referenced-by-count":17,"title":["Renpenning Syndrome in a Turkish Patient: de novo Variant c.607C&gt;T in &lt;b&gt;&lt;i&gt;PACS1&lt;\/i&gt;&lt;\/b&gt; and Hypogammaglobulinemia Phenotype"],"prefix":"10.1159","volume":"11","author":[{"given":"Fatma","family":"Kurt Colak","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nilnur","family":"Eyerci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caner","family":"Aytekin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayse S.","family":"Eksioglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2020,4,17]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12544"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01551.x"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuint.2017.06.005"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31816b5cae"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.10.013"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37476"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30664"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0004104"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.cels.2016.02.002"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.2000.2992"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/507562","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/507562","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:01:39Z","timestamp":1745424099000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000507562"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020]]},"references-count":10,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2020,7,6]]},"published-print":{"date-parts":[[2020,7,9]]}},"URL":"https:\/\/doi.org\/10.1159\/000507562","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020]]}}}