{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T10:47:55Z","timestamp":1790419675125,"version":"4.1.0"},"reference-count":31,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,2,16]],"date-time":"2017-02-16T00:00:00Z","timestamp":1487203200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"PROINPEP Program of the University of Guadalajara"},{"name":"CONACYT-Mexico"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:p>\u3008 We report on an infant with Opitz trigonocephaly C syndrome (<jats:styled-content style=\"fixed-case\">OTCS<\/jats:styled-content>), who also had manifestations of ciliopathy, including short ribs (non\u2010asphyxiating), trident acetabular roofs, postaxial polydactyly cone\u2010shaped epiphyses, and dysplasia of the renal, hepatic and pancreatic tissues. To investigate the molecular cause, we used an exome sequencing strategy followed by Sanger sequencing. Two rare variants, both predicted to result in loss of functional protein, were identified in the <jats:italic><jats:styled-content style=\"fixed-case\">IFT140<\/jats:styled-content><\/jats:italic> gene; a substitution at the splice donor site of exon 24 (c.723 + 1 G &gt; T) and a 17 bp deletion, impacting the first coding exon (c.\u201011_6del). The variants were confirmed as being biallelic using Sanger sequencing, showing that the splice variant was inherited from the propositus mother and the deletion from the father. To date, Mainzer\u2013Saldino syndrome, Jeune syndrome, and a form of nonsyndromic retinal dystrophy, have been identified as ciliopathies caused by <jats:italic><jats:styled-content style=\"fixed-case\">IFT140<\/jats:styled-content><\/jats:italic> mutations. We provide the first description of an <jats:styled-content style=\"fixed-case\">OTCS<\/jats:styled-content> phenotype that appears to result from <jats:italic><jats:styled-content style=\"fixed-case\">IFT140<\/jats:styled-content><\/jats:italic> mutations. The presentation of this patient is consistent with previous reports showing that <jats:styled-content style=\"fixed-case\">OTCS<\/jats:styled-content> already exhibited skeleletal and nonskeletal features of a ciliopathy.<\/jats:p>","DOI":"10.1111\/cge.12924","type":"journal-article","created":{"date-parts":[[2016,11,22]],"date-time":"2016-11-22T13:03:01Z","timestamp":1479819781000},"page":"640-646","source":"Crossref","is-referenced-by-count":15,"title":["Compound heterozygous mutations in the <i><scp>IFT140<\/scp><\/i> gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy"],"prefix":"10.1111","volume":"91","author":[{"given":"C.","family":"Pe\u00f1a\u2010Padilla","sequence":"first","affiliation":[{"name":"Center for Registry and Research on Congenital Anomalies (CRIAC), Division of Pediatrics, Service of Genetics and Cytogenetic Unit \u201cDr. Juan I. Menchaca\u201d Civil Hospital of Guadalajara  Guadalajara Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.R.","family":"Marshall","sequence":"additional","affiliation":[{"name":"The Centre for Applied Genomics, Genetics and Genome Biology  Toronto Canada"},{"name":"Genome Diagnostics, Department of Paediatric Laboratory Medicine The Hospital for Sick Children  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Walker","sequence":"additional","affiliation":[{"name":"The Centre for Applied Genomics, Genetics and Genome Biology  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.W.","family":"Scherer","sequence":"additional","affiliation":[{"name":"The Centre for Applied Genomics, Genetics and Genome Biology  Toronto Canada"},{"name":"Department of Molecular Genetics and the McLaughlin Centre University of Toronto  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Tavares\u2010Mac\u00edas","sequence":"additional","affiliation":[{"name":"Service of Pathology \u201cDr. Juan I. Menchaca\u201d Civil Hospital of Guadalajara  Guadalajara Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Razo\u2010Jim\u00e9nez","sequence":"additional","affiliation":[{"name":"Service of Pathology \u201cDr. Juan I. Menchaca\u201d Civil Hospital of Guadalajara  Guadalajara Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Bobadilla\u2010Morales","sequence":"additional","affiliation":[{"name":"Center for Registry and Research on Congenital Anomalies (CRIAC), Division of Pediatrics, Service of Genetics and Cytogenetic Unit \u201cDr. Juan I. Menchaca\u201d Civil Hospital of Guadalajara  Guadalajara Mexico"},{"name":"\u201cDr. Enrique Corona\u2010Rivera\u201d Institute of Human Genetics, Department of Molecular Biology and Genomics, Health Sciences University Centre University of Guadalajara  Guadalajara Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Acosta\u2010Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Center for Registry and Research on Congenital Anomalies (CRIAC), Division of Pediatrics, Service of Genetics and Cytogenetic Unit \u201cDr. Juan I. Menchaca\u201d Civil Hospital of Guadalajara  Guadalajara Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Corona\u2010Rivera","sequence":"additional","affiliation":[{"name":"Center for Registry and Research on Congenital Anomalies (CRIAC), Division of Pediatrics, Service of Genetics and Cytogenetic Unit \u201cDr. Juan I. Menchaca\u201d Civil Hospital of Guadalajara  Guadalajara Mexico"},{"name":"\u201cDr. Enrique Corona\u2010Rivera\u201d Institute of Human Genetics, Department of Molecular Biology and Genomics, Health Sciences University Centre University of Guadalajara  Guadalajara Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Mendoza\u2010Londono","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Department of Paediatrics The Hospital for Sick Children and University of Toronto  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. R.","family":"Corona\u2010Rivera","sequence":"additional","affiliation":[{"name":"Center for Registry and Research on Congenital Anomalies (CRIAC), Division of Pediatrics, Service of Genetics and Cytogenetic Unit \u201cDr. Juan I. Menchaca\u201d Civil Hospital of Guadalajara  Guadalajara Mexico"},{"name":"\u201cDr. Enrique Corona\u2010Rivera\u201d Institute of Human Genetics, Department of Molecular Biology and Genomics, Health Sciences University Centre University of Guadalajara  Guadalajara Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,2,16]]},"reference":[{"issue":"2","key":"e_1_2_6_2_1","first-page":"161","article-title":"The C syndrome of multiple congenital anomalies","volume":"5","author":"Opitz JM","year":"1969","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1080\/15513810601015753"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37418"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/522014"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37342"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30231"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.7.080505.115610"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2000-9648"},{"issue":"2","key":"e_1_2_6_10_1","first-page":"58","article-title":"The C syndrome","volume":"11","author":"Preus M","year":"1975","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320090209"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00443223"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.22.1.39"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320560220"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971231)73:4<484::AID-AJMG20>3.0.CO;2-M"},{"issue":"6","key":"e_1_2_6_16_1","first-page":"485","article-title":"Opitz trigonocephaly syndrome and terminal transverse limb reduction defects","volume":"40","author":"Fryns JP","year":"1985","journal-title":"Helv Paediatr Acta"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370407"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370404"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370406"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320400413"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440324"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-1025345"},{"issue":"4","key":"e_1_2_6_23_1","first-page":"209","article-title":"Opitz\u2010C syndrome: on the nosology of mental retardation and trigonocephaly","volume":"3","author":"Schaap C","year":"1992","journal-title":"Genet Couns"},{"issue":"2","key":"e_1_2_6_24_1","first-page":"113","article-title":"\u201cC\u201d trigonocephaly syndrome with diaphragmnatic hernia","volume":"6","author":"Addor MC","year":"1995","journal-title":"Genet Couns"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970414)69:4<395::AID-AJMG11>3.0.CO;2-I"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-200X.2003.01819.x"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1097\/scs.0b013e31802d8ae0"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1186\/1752-1947-5-222"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.15-17976"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.03.006"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12550"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.reprotox.2014.05.009"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12924","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12924","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T05:13:12Z","timestamp":1696309992000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12924"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2,16]]},"references-count":31,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017,4]]}},"alternative-id":["10.1111\/cge.12924"],"URL":"https:\/\/doi.org\/10.1111\/cge.12924","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,2,16]]}}}