{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T10:03:59Z","timestamp":1789639439913,"version":"4.0.0"},"reference-count":51,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T00:00:00Z","timestamp":1789603200000},"content-version":"vor","delay-in-days":259,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    Ciliopathies represent a diverse group of inherited disorders resulting from dysfunctional cilia. A rare subset is associated with biallelic variants in\n                    <jats:italic>WDR19<\/jats:italic>\n                    , with fewer than 100 affected individuals reported worldwide. This study is aimed at reviewing the clinical and molecular spectrum of\n                    <jats:italic>WDR19<\/jats:italic>\n                    \u2010associated ciliopathies, with a particular focus on genotype\u2013phenotype correlations. We report a 32\u2010year\u2010old woman with renal, ocular and hepatic manifestations attributed to compound heterozygous variants in\n                    <jats:italic>WDR19<\/jats:italic>\n                    , and reviewed available data from 93 previously published cases. Missense, truncating, splice\u2010site and copy number variants have all been reported, with renal, ocular, skeletal and hepatic involvement most frequently observed. Genotype\u2013phenotype analyses indicated that the presence of a truncating variant was associated with increased likelihood of skeletal involvement and reduced likelihood of hepatobiliary disease compared with individuals harbouring only missense variants. Amongst individuals with only missense variants, variants located outside repeat protein domains were associated with early symptom onset (before 16 years of age) and with ocular manifestations. Notably, recurrent variants demonstrated considerable phenotypic variability. This study represents the largest review of\n                    <jats:italic>WDR19<\/jats:italic>\n                    variants to date and contributes to current understanding of\n                    <jats:italic>WDR19<\/jats:italic>\n                    \u2010related disease.\n                  <\/jats:p>","DOI":"10.1155\/humu\/9449547","type":"journal-article","created":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T09:22:06Z","timestamp":1789636926000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Biallelic WDR19 Variants: Systematic Analysis of Genotype\u2013Phenotype Correlations"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2474-5202","authenticated-orcid":false,"given":"Zoe","family":"Webster","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Woods","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Dalziel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1405-4694","authenticated-orcid":false,"given":"Kylie","family":"Drake","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6242-4306","authenticated-orcid":false,"given":"Guillem","family":"de Valles-Ib\u00e1\u00f1ez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8748-4866","authenticated-orcid":false,"given":"Gemma","family":"Poke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,17]]},"reference":[{"key":"e_1_2_12_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.10.001"},{"key":"e_1_2_12_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrm.2017.60"},{"key":"e_1_2_12_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx396"},{"key":"e_1_2_12_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.heliyon.2023.e23257"},{"key":"e_1_2_12_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41419-024-06428-9"},{"key":"e_1_2_12_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0888-7543(03)00151-4"},{"key":"e_1_2_12_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12196"},{"key":"e_1_2_12_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10815-020-01770-1"},{"key":"e_1_2_12_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-015-3068-8"},{"key":"e_1_2_12_10_2","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2025.2463145"},{"key":"e_1_2_12_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_12_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/database\/baad047"},{"key":"e_1_2_12_13_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkae1010"},{"key":"e_1_2_12_14_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt1113"},{"key":"e_1_2_12_15_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bty897"},{"key":"e_1_2_12_16_2","unstructured":"Franklin by Genoox:https:\/\/franklin.genoox.com."},{"key":"e_1_2_12_17_2","volume-title":"_R: A Language and Environment for Statistical Computing_","author":"R Core Team","year":"2025"},{"key":"e_1_2_12_18_2","volume-title":"RStudio: Integrated Development Environment for R","author":"Posit Team","year":"2025"},{"key":"e_1_2_12_19_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1297-0"},{"key":"e_1_2_12_20_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-015-3185-4"},{"key":"e_1_2_12_21_2","doi-asserted-by":"publisher","DOI":"10.1038\/srep32792"},{"key":"e_1_2_12_22_2","doi-asserted-by":"publisher","DOI":"10.1111\/nep.12996"},{"key":"e_1_2_12_23_2","first-page":"26","article-title":"Copy Number Variations and Multiallelic Variants in Korean Patients With Leber Congenital Amaurosis","volume":"26","author":"Surl D.","year":"2020","journal-title":"Molecular Vision"},{"key":"e_1_2_12_24_2","doi-asserted-by":"publisher","DOI":"10.12688\/f1000research.40338.2"},{"key":"e_1_2_12_25_2","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-021-00925-x"},{"key":"e_1_2_12_26_2","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-022-01020-5"},{"key":"e_1_2_12_27_2","doi-asserted-by":"publisher","DOI":"10.1007\/s13730-024-00871-5"},{"key":"e_1_2_12_28_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10633-025-10016-3"},{"key":"e_1_2_12_29_2","doi-asserted-by":"publisher","DOI":"10.34067\/KID.0002272020"},{"key":"e_1_2_12_30_2","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2015.317"},{"key":"e_1_2_12_31_2","doi-asserted-by":"publisher","DOI":"10.34067\/KID.0001342020"},{"key":"e_1_2_12_32_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2021-108065"},{"key":"e_1_2_12_33_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-023-27641-0"},{"key":"e_1_2_12_34_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23362"},{"key":"e_1_2_12_35_2","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2023.06.006"},{"key":"e_1_2_12_36_2","first-page":"87","article-title":"Is C1q Nephropathy Associated With a WDR19 Gene Mutation? A Case Report","volume":"25","author":"Kaynar K.","year":"2021","journal-title":"Hippokratia"},{"key":"e_1_2_12_37_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-016-1099-5"},{"key":"e_1_2_12_38_2","doi-asserted-by":"publisher","DOI":"10.1503\/cmaj.150823"},{"key":"e_1_2_12_39_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-021-05075-1"},{"key":"e_1_2_12_40_2","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4674"},{"key":"e_1_2_12_41_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-023-01753-y"},{"key":"e_1_2_12_42_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2020.104073"},{"key":"e_1_2_12_43_2","doi-asserted-by":"publisher","DOI":"10.3390\/genes12050675"},{"key":"e_1_2_12_44_2","doi-asserted-by":"publisher","DOI":"10.3390\/genes14020291"},{"key":"e_1_2_12_45_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-0761-1"},{"key":"e_1_2_12_46_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2017.04.008"},{"key":"e_1_2_12_47_2","doi-asserted-by":"publisher","DOI":"10.3803\/EnM.2020.302"},{"key":"e_1_2_12_48_2","doi-asserted-by":"publisher","DOI":"10.1007\/s13238-011-1018-1"},{"key":"e_1_2_12_49_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.3001207"},{"key":"e_1_2_12_50_2","doi-asserted-by":"publisher","DOI":"10.21037\/tp-23-574"},{"key":"e_1_2_12_51_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62746"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/humu\/9449547","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/humu\/9449547","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/humu\/9449547","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T09:22:10Z","timestamp":1789636930000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/humu\/9449547"}},"subtitle":[],"editor":[{"given":"Miklos","family":"Sahin -Toth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":51,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1155\/humu\/9449547"],"URL":"https:\/\/doi.org\/10.1155\/humu\/9449547","archive":["Portico"],"relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2026-05-01","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-01","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-17","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"9449547"}}