{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T10:25:50Z","timestamp":1783938350480,"version":"3.55.0"},"reference-count":5,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2023,11,3]],"date-time":"2023-11-03T00:00:00Z","timestamp":1698969600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2023,11,3]],"date-time":"2023-11-03T00:00:00Z","timestamp":1698969600000},"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> Ciliopathies with major skeletal involvement embrace a group of heterogeneous disorders caused by pathogenic variants in a group of diverse genes. A narrow thorax with shortening of long bones inspires a clinical entity underlined by dysfunction of primary cilia. Currently, more than 23 genes are listed in the OMIM database corresponding to this clinical entity: WDR19\/34\/35\/60, IFT43\/52\/80\/81\/140\/172, DYNC2LI1, TTC21B, DYNLT2B, EVC2, EVC, INTU, NEK1, CEP120, DYNC2H1, KIAA0586, SRTD1, KIAA0753, and SRTD12. Recently, individuals with biallelic loss-of-function variants in <i>GRK2<\/i> are shown to demonstrate a phenotype compatible with Jeune syndrome. Experimental evidence has shown that impaired function of <i>GRK2<\/i> compromises cilia-based signaling of Hedgehog pathway as well as Wnt signaling, while cilia morphology remains intact. Hence, <i>GRK2<\/i> is now considered an essential protein in regulation of the skeletogenesis. <b><i>Case Presentation:<\/i><\/b> We presented a female infant born to a consanguineous marriage who was found to have a biallelic p.R474* alteration in <i>GRK2<\/i> in reanalysis of the whole-exome sequencing (WES) data. The patient was exhibiting major clinical features of Jeune syndrome, such as shortened long bones, ribs, and narrow thorax. <b><i>Discussion:<\/i><\/b> Our reanalysis of WES data revealed a likely pathogenic biallelic variant in the <i>GRK2<\/i> which is probably responsible for the Jeune syndrome phenotype in the patient. Hence, our report supports the recently discovered association of <i>GRK2<\/i> loss-of-function variants with Jeune syndrome phenotype and emphasizes the significance of reanalysis of WES data, notably in patients with phenotypes suggestive of a such discernible Mendelian disorder. <\/jats:p>","DOI":"10.1159\/000534031","type":"journal-article","created":{"date-parts":[[2023,11,3]],"date-time":"2023-11-03T22:00:51Z","timestamp":1699048851000},"page":"119-124","source":"Crossref","is-referenced-by-count":3,"title":["Reanalysis of Whole-Exome Sequencing Data of an Infant with Suspected Diagnosis of Jeune Syndrome Revealed a Likely Pathogenic Variant in <i>GRK2:<\/i> A Newly Associated Gene for Jeune Syndrome Phenotype"],"prefix":"10.1159","volume":"15","author":[{"given":"Vehap","family":"Topcu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Said Furkan","family":"Yildirim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Husnu Mutlu","family":"Turan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2023,11,3]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101282"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/ng2038"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.15252\/emmm.201911739"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1210\/me.2009-0084"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/msy\/article-pdf\/doi\/10.1159\/000534031\/4188515\/000534031.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/msy\/article-pdf\/doi\/10.1159\/000534031\/4188515\/000534031.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:43:01Z","timestamp":1745422981000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000534031"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,3]]},"references-count":5,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2024,4,2]]},"published-print":{"date-parts":[[2024,3,26]]}},"URL":"https:\/\/doi.org\/10.1159\/000534031","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,11,3]]}}}