{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T21:12:43Z","timestamp":1789679563200,"version":"4.0.1"},"reference-count":12,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ciliopathies are a group of genetic disorders caused by ciliary dysfunction. Thirty\u2010five distinct multi\u2010organ phenotypes have been recognized, with 187 genes associated. We performed a literature review of pancreatic involvement in ciliopathies and found that pancreatic disease is an uncommon phenotype described in only a handful of these genetic disorders. We present a case report of a pediatric patient with <jats:italic>WDR19<\/jats:italic>\u2010related ciliopathy whose degree of pancreatic disease exceeds what has previously been reported in the literature for <jats:italic>WDR19<\/jats:italic>\u2010related ciliopathies. <jats:italic>WDR19<\/jats:italic> is one member of the nephronophthisis (NPHP)\u2010related ciliopathy gene family and encodes an intra\u2010flagellar transport protein (IFT144). Our patient presented with restrictive and obstructive lung disease, short rib thoracic dysplasia, end\u2010stage renal disease (ESRD), developmental delay, hepatic fibrosis, and severe recurrent pancreatitis. Whole\u2010exome sequencing (GeneDx) showed two likely pathogenic <jats:italic>WDR19<\/jats:italic> variants <jats:italic>in trans<\/jats:italic> (maternally inherited: c.742G\u2009&gt;\u2009A, p.G248S; paternally inherited: c.617\u2009T\u2009&gt;\u2009C, p.L206P). Among <jats:italic>WDR19<\/jats:italic>\u2010related ciliopathies, pancreatic involvement is rarely reported and there have been no cases of severe, recurrent pancreatitis. Through this case report and literature review we hope to emphasize that pancreatic involvement is a rare yet important clinical phenotype to recognize in ciliopathies, especially in <jats:italic>WDR19<\/jats:italic>\u2010related ciliopathies.<\/jats:p>","DOI":"10.1002\/ajmg.a.62746","type":"journal-article","created":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T07:27:35Z","timestamp":1648798055000},"page":"2242-2245","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A unique pancreatic phenotype in a child with a <scp><i>WDR19<\/i><\/scp>\u2010related ciliopathy: A case report and literature review of\u00a0pancreatic involvement in ciliopathies"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4206-717X","authenticated-orcid":false,"given":"Michelle Nguyen","family":"Keyser","sequence":"first","affiliation":[{"name":"Department of Internal Medicine University of California  San Diego California USA"},{"name":"Department of Pediatrics University of California  San Diego California USA"},{"name":"Department of Pediatrics Rady Children's Hospital  San Diego California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of California  San Diego California USA"},{"name":"Department of Pediatrics Rady Children's Hospital  San Diego California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly","family":"Newton","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of California  San Diego California USA"},{"name":"Department of Pediatrics Rady Children's Hospital  San Diego California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadine","family":"Benador","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of California  San Diego California USA"},{"name":"Department of Pediatrics Rady Children's Hospital  San Diego California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3312-7115","authenticated-orcid":false,"given":"Julia","family":"Beauchamp\u2010Walters","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of California  San Diego California USA"},{"name":"Department of Pediatrics Rady Children's Hospital  San Diego California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynne M.","family":"Bird","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of California  San Diego California USA"},{"name":"Department of Pediatrics Rady Children's Hospital  San Diego California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,4]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1177\/1179547618765761"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cgh.2006.11.023"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.10.001"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-014-2762-2"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1297-0"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-015-3068-8"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000001482"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pan.2012.05.002"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOG.0000000000000197"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm.2017.60"},{"key":"e_1_2_9_12_1","volume-title":"GeneReviews\u00ae 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