{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,20]],"date-time":"2026-03-20T22:54:29Z","timestamp":1774047269790,"version":"3.50.1"},"reference-count":0,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2023,12,19]],"date-time":"2023-12-19T00:00:00Z","timestamp":1702944000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2023,12,19]],"date-time":"2023-12-19T00:00:00Z","timestamp":1702944000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2024]]},"abstract":"<b><i>Introduction:<\/i><\/b> Early-onset severe obesity is usually the result of an underlying genetic disorder, and several genes have recently been shown to cause syndromic and nonsyndromic forms of obesity. The \u201c<i>centrosomal protein 19<\/i> (<i>CEP19<\/i>)<i>\u201d<\/i> gene encodes for a centrosomal and ciliary protein. Homozygous variants in the <i>CEP19<\/i> gene are extremely rare causes of early-onset severe monogenic obesity. Herein, we present a Turkish family with early-onset severe obesity with variable features. <b><i>Methods:<\/i><\/b> Sanger sequencing and whole-exome sequencing were performed to identify the genetic etiology in the family. <b><i>Results:<\/i><\/b> The index case was a 12-year-old female who presented with severe obesity (BMI of 62.7 kg\/m<sup>2<\/sup>), metabolic syndrome, and diabetic ketoacidosis. Her nonidentical twin female siblings also had early-onset severe obesity, metabolic syndrome, and diabetes. In addition, one of the affected siblings had situs inversus abdominalis, polysplenia, lumbar vertebral fusion, and abnormal lateralization. A novel homozygous nonsense (c.169C&gt;T, p. Arg57*) pathogenic variant was detected in exon 3 of the <i>CEP19<\/i> gene in all affected members of the family. One unaffected sister and unaffected parents were heterozygous for the variant. This variant is predicted to cause a stop codon at amino acid sequence 57, leading to a truncated CEP19 protein. <b><i>Discussion\/Conclusion:<\/i><\/b> Our study expands the phenotypical manifestations and variation database of <i>CEP19<\/i> variants. The findings in one of our patients reaffirm its role in the assembly and function of both motile and immotile cilia. <\/jats:p>","DOI":"10.1159\/000535253","type":"journal-article","created":{"date-parts":[[2023,12,20]],"date-time":"2023-12-20T14:53:57Z","timestamp":1703084037000},"page":"104-113","source":"Crossref","is-referenced-by-count":1,"title":["Severe Early-Onset Obesity and Diabetic Ketoacidosis due to a Novel Homozygous c.169C&gt;T p.Arg57* Variant in <i>CEP19<\/i> Gene"],"prefix":"10.1159","volume":"15","author":[{"given":"Atilla","family":"Cayir","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayberk","family":"Turkyilmaz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hannah","family":"Rabenstein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fadime","family":"Guven","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuksel Sumeyra","family":"Karagoz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dogus","family":"Vuralli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Wabitsch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huseyin","family":"Demirbilek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2023,12,19]]},"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/msy\/article-pdf\/15\/2\/104\/4188660\/000535253.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/msy\/article-pdf\/15\/2\/104\/4188660\/000535253.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:55:34Z","timestamp":1745423734000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000535253"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,19]]},"references-count":0,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2024,4,2]]},"published-print":{"date-parts":[[2024,3,26]]}},"URL":"https:\/\/doi.org\/10.1159\/000535253","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12,19]]}}}