{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T22:33:18Z","timestamp":1791325998598,"version":"4.3.1"},"reference-count":51,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2010,5,14]],"date-time":"2010-05-14T00:00:00Z","timestamp":1273795200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2010,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ciliary disorders share typical features, such as polydactyly, renal and biliary cystic dysplasia, and retinitis pigmentosa, which often overlap across diagnostic entities. We report on two siblings of consanguineous parents and two unrelated children, both of unrelated parents, with co\u2010occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy, an association that adds to the observation of common final patterns of malformations in ciliary disorders. Using homozygosity mapping in the siblings, we were able to exclude all known genes\/loci for both syndromes except for <jats:italic>INVS<\/jats:italic>, <jats:italic>AHI1<\/jats:italic>, and three genes from the previously described Jeune locus at 15q13. No pathogenic variants were found in these genes by direct sequencing. In the third child reported, sequencing of <jats:italic>RPGRIP1L<\/jats:italic>, <jats:italic>ARL13B<\/jats:italic>, <jats:italic>AHI1<\/jats:italic>, <jats:italic>TMEM67<\/jats:italic>, <jats:italic>OFD1<\/jats:italic>, <jats:italic>CC2D2A<\/jats:italic>, and deletion analysis of <jats:italic>NPHP1<\/jats:italic> showed no mutations. Although this study failed to identify a mutation in the patients tested, the co\u2010occurrence of Joubert and Jeune syndromes is likely to represent a distinct entity caused by mutations in a yet to be discovered gene. The mechanisms by which certain organ systems are affected more than others in the spectrum of ciliary diseases remain largely unknown. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33416","type":"journal-article","created":{"date-parts":[[2010,5,14]],"date-time":"2010-05-14T22:39:23Z","timestamp":1273876763000},"page":"1411-1419","source":"Crossref","is-referenced-by-count":30,"title":["Co\u2010occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy"],"prefix":"10.1002","volume":"152A","author":[{"given":"A.M.","family":"Lehman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Eydoux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Doherty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.A.","family":"Glass","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Chitayat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.Y.H.","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Langlois","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.L.","family":"Yong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.B.","family":"Lowry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Hildebrandt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Trnka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,5,14]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"592","article-title":"Asphyxiating thoracic dysplasia associated with proximal myopathy and arachnoid cyst","volume":"33","author":"Ardura Fern\u00e1ndez J","year":"1990","journal-title":"An Esp Pediatr"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2069"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/510499"},{"key":"e_1_2_5_5_1","first-page":"1067","volume-title":"Pediatric kidney disease","author":"Barnes EG","year":"1992"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2038"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0955-0674(02)00017-0"},{"key":"e_1_2_5_8_1","first-page":"35","article-title":"The renal lesion in syndromes of congenital malformations","volume":"10","author":"Bernstein J","year":"1974","journal-title":"Birth Defects"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.423"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0028-1091505"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.06.023"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.09.002"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.04.016"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2039"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.60.5.426"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.cellbio.23.090506.123249"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1177\/08830738060210041001"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30313"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature06258"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.10.002"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.02732"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1053\/ajkd.2001.24514"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000353"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000214)90:4<310::AID-AJMG9>3.0.CO;2-N"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.427"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.19.9.813"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1086\/378206"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00988659"},{"key":"e_1_2_5_29_1","first-page":"5e","volume-title":"Taybi and Lachman's radiology of syndromes, Metabolic disorders, and skeletal dysplasias","author":"Lachman RS","year":"2007"},{"key":"e_1_2_5_30_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.014787"},{"key":"e_1_2_5_31_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307389701200703"},{"key":"e_1_2_5_32_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307389901400906"},{"key":"e_1_2_5_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.08.007"},{"key":"e_1_2_5_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.015"},{"key":"e_1_2_5_35_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.6.431"},{"key":"e_1_2_5_36_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.52.10.758"},{"key":"e_1_2_5_37_1","doi-asserted-by":"publisher","DOI":"10.1086\/421846"},{"key":"e_1_2_5_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201648"},{"key":"e_1_2_5_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971003)72:1<59::AID-AJMG12>3.0.CO;2-T"},{"key":"e_1_2_5_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320180414"},{"key":"e_1_2_5_41_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1786"},{"key":"e_1_2_5_42_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb01811.x"},{"key":"e_1_2_5_43_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470050779"},{"key":"e_1_2_5_44_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290221"},{"key":"e_1_2_5_45_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.13.16.2072"},{"key":"e_1_2_5_46_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-973701"},{"key":"e_1_2_5_47_1","first-page":"35","article-title":"Asphyxiating thoracic dysplasia associated with hepatic ductal hypoplasia, agenesis of the corpus callosum and Dandy\u2010Walker syndrome","volume":"45","author":"Trabelsi M","year":"1990","journal-title":"Pediatrie"},{"key":"e_1_2_5_48_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440108"},{"key":"e_1_2_5_49_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32962"},{"key":"e_1_2_5_50_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20422"},{"key":"e_1_2_5_51_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1987.01060050069040"},{"key":"e_1_2_5_52_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280523"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.33416","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33416","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T21:34:44Z","timestamp":1697060084000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33416"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,5,14]]},"references-count":51,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2010,6]]}},"alternative-id":["10.1002\/ajmg.a.33416"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33416","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,5,14]]}}}