{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T04:25:20Z","timestamp":1775881520301,"version":"3.50.1"},"reference-count":25,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2024,6,25]],"date-time":"2024-06-25T00:00:00Z","timestamp":1719273600000},"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":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ciliopathies represent a major category of rare multisystem disease. Arriving at a specific diagnosis for a given patient is challenged by the significant genetic and clinical heterogeneity of these conditions. We report the outcome of the diagnostic odyssey of a child with obesity, renal, and retinal disease. Genome sequencing identified biallelic splice site variants in sodium channel and clathrin linker 1 (<jats:italic>SCLT1<\/jats:italic>), an emerging ciliopathy gene. We review the literature on all patients reported with biallelic <jats:italic>SCLT1<\/jats:italic> variants highlighting a frequent clinical presentation that overlaps Bardet\u2013Biedl and Senior\u2013Loken syndromes. We also discuss current concepts in syndrome designation in light of these data.<\/jats:p>","DOI":"10.1002\/ajmg.a.63789","type":"journal-article","created":{"date-parts":[[2024,6,25]],"date-time":"2024-06-25T12:59:41Z","timestamp":1719320381000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Genome sequencing identifies biallelic variants in <i>SCLT1<\/i> in a patient with syndromic nephronophthisis: Reflections on the <i>SCLT1<\/i>\u2010related ciliopathy spectrum"],"prefix":"10.1002","volume":"194","author":[{"given":"E.","family":"Gillesse","sequence":"first","affiliation":[{"name":"Alberta Children's Hospital Research Institute  Calgary Canada"},{"name":"Department of Medical Genetics University of Calgary  Calgary Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Wade","sequence":"additional","affiliation":[{"name":"Alberta Children's Hospital Research Institute  Calgary Canada"},{"name":"Department of Pediatrics University of Calgary  Calgary Canada"},{"name":"Department of Cell Biology and Anatomy University of Calgary  Calgary Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. S.","family":"Parboosingh","sequence":"additional","affiliation":[{"name":"Alberta Children's Hospital Research Institute  Calgary Canada"},{"name":"Department of Medical Genetics University of Calgary  Calgary Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. Y. B.","family":"Au","sequence":"additional","affiliation":[{"name":"Alberta Children's Hospital Research Institute  Calgary Canada"},{"name":"Department of Medical Genetics University of Calgary  Calgary Canada"},{"name":"Department of Pediatrics University of Calgary  Calgary Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F. P.","family":"Bernier","sequence":"additional","affiliation":[{"name":"Alberta Children's Hospital Research Institute  Calgary Canada"},{"name":"Department of Medical Genetics University of Calgary  Calgary Canada"},{"name":"Department of Pediatrics University of Calgary  Calgary Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"C4R Consortium","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. E.","family":"Lamont","sequence":"additional","affiliation":[{"name":"Alberta Children's Hospital Research Institute  Calgary Canada"},{"name":"Department of Medical Genetics University of Calgary  Calgary Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9881-5467","authenticated-orcid":false,"given":"A. M.","family":"Innes","sequence":"additional","affiliation":[{"name":"Alberta Children's Hospital Research Institute  Calgary Canada"},{"name":"Department of Medical Genetics University of Calgary  Calgary Canada"},{"name":"Department of Pediatrics University of Calgary  Calgary Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,6,25]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22477"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/375178"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.11.013"},{"key":"e_1_2_7_5_1","doi-asserted-by":"crossref","unstructured":"CADTH Reimbursement Recommendation. (2023).Setmelanotide (Imcivree): Indication: For weight management in adult and pediatric patients 6\u2009years of age and older with obesity due to Bardet\u2013Biedl syndrome[Internet]. Canadian Agency for Drugs and Technologies in Health.http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK599986\/","DOI":"10.51731\/cjht.2023.804"},{"issue":"12","key":"e_1_2_7_6_1","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0168966","article-title":"Novel candidate genes and a wide spectrum of structural and point mutations responsible for inherited retinal dystrophies revealed by exome sequencing","volume":"11","author":"Castro\u2010Mir\u00f3 M.","year":"2016","journal-title":"PLoS One"},{"key":"e_1_2_7_7_1","volume-title":"GeneReviews\u00ae","author":"Forsyth R.","year":"2023"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkad1005"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2023.2215332"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2018.12.015"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-018-35152-6"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-020-0707-1"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkx1153"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2022.1058895"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx183"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62457"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41576-023-00587-9"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13730-020-00472-y"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/29.5.1185"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1089\/cmb.1997.4.311"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm.2017.60"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-016-1099-5"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-0761-1"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/15.17.7155"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.207043.112"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1089\/1066527041410418"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63789","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,2]],"date-time":"2024-12-02T09:42:22Z","timestamp":1733132542000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63789"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,25]]},"references-count":25,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2024,11]]}},"alternative-id":["10.1002\/ajmg.a.63789"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63789","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,25]]},"assertion":[{"value":"2024-04-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-03","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-25","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63789"}}