{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T15:53:49Z","timestamp":1787500429504,"version":"build-2736575974"},"reference-count":24,"publisher":"Cold Spring Harbor Laboratory","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2017,7]]},"abstract":"<jats:p>\n                    Disruption of normal ciliary function results in a range of diseases collectively referred to as ciliopathies. Here we report a child with a phenotype that overlapped with Joubert, oral\u2013facial\u2013digital, and Pallister\u2013Hall syndromes including brain, limb, and craniofacial anomalies. We performed exome-sequence analysis on a proband and both parents, filtered for putative causative variants, and Sanger-verified variants of interest. Identified variants in\n                    <jats:italic>CLUAP1<\/jats:italic>\n                    were functionally analyzed in a\n                    <jats:italic>Xenopus<\/jats:italic>\n                    system to determine their effect on ciliary function. Two variants in\n                    <jats:italic>CLUAP1<\/jats:italic>\n                    were identified through exome-sequence analysis, Chr16:g.3558407T&gt;G, c.338T&gt;G, p.(Met113Arg) and Chr16:g.3570011C&gt;T, c.688C&gt;T, p.(Arg230Ter). These variants were rare in the Exome Aggregation Consortium (ExAC) data set of 65,000 individuals (one and two occurrences, respectively). Transfection of mutant\n                    <jats:italic>CLUAP1<\/jats:italic>\n                    constructs into\n                    <jats:italic>Xenopus<\/jats:italic>\n                    embryos showed reduced protein levels p.(Arg230Ter) and reduced intraflagellar transport p.(Met113Arg). The genetic data show that these variants are present in an affected child, are rare in the population, and result in reduced, but not absent, intraflagellar transport. We conclude that biallelic mutations in\n                    <jats:italic>CLUAP1<\/jats:italic>\n                    resulted in this novel ciliopathy syndrome in the proband.\n                  <\/jats:p>","DOI":"10.1101\/mcs.a001321","type":"journal-article","created":{"date-parts":[[2017,4,12]],"date-time":"2017-04-12T20:25:21Z","timestamp":1492028721000},"page":"a001321","source":"Crossref","is-referenced-by-count":21,"title":["Compound heterozygous alterations in intraflagellar transport protein\n                    <i>CLUAP1<\/i>\n                    in a child with a novel Joubert and oral\u2013facial\u2013digital overlap syndrome"],"prefix":"10.1101","volume":"3","author":[{"given":"Jennifer J.","family":"Johnston","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chanjae","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid M.","family":"Wentzensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa A.","family":"Parisi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Molly M.","family":"Crenshaw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie C.","family":"Sapp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey M.","family":"Gross","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John B.","family":"Wallingford","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie G.","family":"Biesecker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"246","published-online":{"date-parts":[[2017,4,12]]},"reference":[{"key":"2021112506121976000_3.4.a001321.1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2011.088864"},{"key":"2021112506121976000_3.4.a001321.2","doi-asserted-by":"publisher","DOI":"10.1038\/ng2038"},{"key":"2021112506121976000_3.4.a001321.3","doi-asserted-by":"publisher","DOI":"10.1172\/JCI45627"},{"key":"2021112506121976000_3.4.a001321.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2013.05.024"},{"key":"2021112506121976000_3.4.a001321.5","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.01439"},{"key":"2021112506121976000_3.4.a001321.6","doi-asserted-by":"publisher","DOI":"10.1038\/ng.756"},{"key":"2021112506121976000_3.4.a001321.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2011.11.024"},{"key":"2021112506121976000_3.4.a001321.8","doi-asserted-by":"publisher","DOI":"10.1186\/s13630-016-0034-4"},{"key":"2021112506121976000_3.4.a001321.9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070110"},{"key":"2021112506121976000_3.4.a001321.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2015.09.003"},{"key":"2021112506121976000_3.4.a001321.11","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.14-14888"},{"key":"2021112506121976000_3.4.a001321.12","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"2021112506121976000_3.4.a001321.13","unstructured":"Parisi M , Glass I . 1993. Joubert syndrome and related disorders. In GeneReviews (ed. Pagon RA , ). University of Washington, Seattle, WA."},{"key":"2021112506121976000_3.4.a001321.14","doi-asserted-by":"publisher","DOI":"10.1186\/2046-2530-1-20"},{"key":"2021112506121976000_3.4.a001321.15","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(13)70136-4"},{"key":"2021112506121976000_3.4.a001321.16","doi-asserted-by":"crossref","first-page":"1044","DOI":"10.1038\/gim.2015.205","article-title":"Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1","volume":"18","year":"2016","journal-title":"Genet Med"},{"key":"2021112506121976000_3.4.a001321.17","doi-asserted-by":"publisher","DOI":"10.15252\/embj.201593164"},{"key":"2021112506121976000_3.4.a001321.18","doi-asserted-by":"publisher","DOI":"10.1101\/gr.106716.110"},{"key":"2021112506121976000_3.4.a001321.19","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btr711"},{"key":"2021112506121976000_3.4.a001321.20","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3558"},{"key":"2021112506121976000_3.4.a001321.21","doi-asserted-by":"publisher","DOI":"10.1038\/ng.105"},{"key":"2021112506121976000_3.4.a001321.22","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-59565-2.00058-7"},{"key":"2021112506121976000_3.4.a001321.23","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103416"},{"key":"2021112506121976000_3.4.a001321.24","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2005.05.058"}],"container-title":["Molecular Case Studies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1101\/mcs.a001321","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,25]],"date-time":"2021-11-25T09:12:28Z","timestamp":1637831548000},"score":1,"resource":{"primary":{"URL":"http:\/\/molecularcasestudies.cshlp.org\/lookup\/doi\/10.1101\/mcs.a001321"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4,12]]},"references-count":24,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2017,7,5]]},"published-print":{"date-parts":[[2017,7]]}},"alternative-id":["10.1101\/mcs.a001321"],"URL":"https:\/\/doi.org\/10.1101\/mcs.a001321","relation":{},"ISSN":["2373-2865","2373-2873"],"issn-type":[{"value":"2373-2865","type":"print"},{"value":"2373-2873","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,4,12]]}}}