{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T23:50:34Z","timestamp":1788306634396,"version":"build-2803163510"},"reference-count":9,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,12,10]],"date-time":"2019-12-10T00:00:00Z","timestamp":1575936000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["K12 DK0083014"],"award-info":[{"award-number":["K12 DK0083014"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Nephronophthisis\u201019 (NPHP19) due to truncating mutations in the <jats:italic>DCDC2<\/jats:italic> gene has only been described previously in two patients. We describe a new case in a patient from the island country of Saint Vincent and the Grenadines, in the West Indies. This condition is a renal\u2010hepatic ciliopathy with phenotypic characteristics that include hepatosplenomegaly, hepatic fibrosis with bile cholestasis, increased kidney echogenicity, and end\u2010stage renal disease.Here, we report a 13\u2010year\u2010old African\u2010Caribbean female with areas of absence of heterozygosity suggesting parental consanguinity or identity by decent due to the founder effect, harboring a novel homozygous pathogenic variant (c.383C&gt;G, p.S128*) in exon 3 of <jats:italic>DCDC2<\/jats:italic>. Her phenotype is consistent with the other two known cases of NPHP19, however, this patient also presents psychiatric symptoms. These psychiatric findings were not present in the first two documented cases, and we discuss possible etiologies of these symptoms. Our study presents the first patient from the West Indies with NPHP19, and also highlights the need to investigate the frequency of pathogenic variants within at\u2010risk populations.<\/jats:p>","DOI":"10.1002\/ajmg.a.61440","type":"journal-article","created":{"date-parts":[[2019,12,10]],"date-time":"2019-12-10T14:02:56Z","timestamp":1575986576000},"page":"527-531","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Nephronophthisis due to a novel <i>DCDC2<\/i> variant in a patient from African\u2010Caribbean descent: A case report"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6622-1672","authenticated-orcid":false,"given":"Brady","family":"Slater","sequence":"first","affiliation":[{"name":"Baylor College of Medicine  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nasim","family":"Bekheirnia","sequence":"additional","affiliation":[{"name":"Baylor College of Medicine  Houston Texas"},{"name":"Renal Section, Department of Pediatrics Baylor College of Medicine  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Angelo","sequence":"additional","affiliation":[{"name":"Renal Section, Department of Pediatrics Baylor College of Medicine  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1330-7031","authenticated-orcid":false,"given":"Weimen","family":"Bi","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"},{"name":"Baylor Genetics  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael C.","family":"Braun","sequence":"additional","affiliation":[{"name":"Renal Section, Department of Pediatrics Baylor College of Medicine  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mir Reza","family":"Bekheirnia","sequence":"additional","affiliation":[{"name":"Renal Section, Department of Pediatrics Baylor College of Medicine  Houston Texas"},{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,12,10]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1080\/02724936.1998.11747955"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23031"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2016.07.017"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv009"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318217477f"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10519-010-9408-3"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0508591102"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.12.002"},{"key":"e_1_2_6_10_1","unstructured":"United Nations Population Division(2019 July 1). 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