{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T11:30:19Z","timestamp":1791286219466,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,3,22]],"date-time":"2005-03-22T00:00:00Z","timestamp":1111449600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2005,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Jouberts syndrome\u2013related disorders are a group of recessively inherited conditions showing cerebellar vermis hypoplasia and the molar tooth sign of the midbrain\u2013hindbrain junction. Recent analyses have suggested at least three loci, JBTS1 (9q34.3), \u20102 (11p11.2\u2010q12.3), and \u20103 (6q23), but the phenotypic spectrum associated with each locus has not been delineated. In addition, deletions of the<jats:italic>NPHP1<\/jats:italic>gene, usually responsible for isolated juvenile nephronophthisis, are occasionally encountered among Jouberts syndrome\u2013related disorder patients. Here, we describe four novel families showing evidence of linkage to two of these loci, provide a 3.6Mb refinement of the JBTS2 locus, and perform a detailed comparison of all linked families identified so far, to define the clinical and radiographical hallmarks for each genetic condition. We find that JBTS1 and \u20103 primarily show features restricted to the central nervous system, with JBTS1 showing largely pure cerebellar and midbrain\u2013hindbrain junction involvement, and JBTS3 displaying cerebellar, midbrain\u2013hindbrain junction, and cerebral cortical features, most notably polymicrogyria. Conversely, JBTS2 is associated with multiorgan involvement of kidney, retina, and liver, in addition to the central nervous system features, and results in extreme phenotypic variability. This provides a useful framework for genetic testing strategies and prediction of which patients are most likely to experience development of systemic complications. Ann Neurol 2005;57:513\u2013519<\/jats:p>","DOI":"10.1002\/ana.20422","type":"journal-article","created":{"date-parts":[[2005,3,22]],"date-time":"2005-03-22T18:47:43Z","timestamp":1111517263000},"page":"513-519","source":"Crossref","is-referenced-by-count":96,"title":["Distinguishing the four genetic causes of jouberts syndrome\u2013related disorders"],"prefix":"10.1002","volume":"57","author":[{"given":"Enza Maria","family":"Valente","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah E.","family":"Marsh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Castori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracy","family":"Dixon\u2010Salazar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lihadh","family":"Al\u2010Gazali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean","family":"Messer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clara","family":"Barbot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. Geoffrey","family":"Woods","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugen","family":"Boltshauser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asma A.","family":"Al\u2010Tawari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmelo D.","family":"Salpietro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hulya","family":"Kayserili","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L\u00e1szl\u00f3","family":"Sztriha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moez","family":"Gribaa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Koenig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph G.","family":"Gleeson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,3,22]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.19.9.813"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1177\/088307389901400605"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430415"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20437"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(98)00154-4"},{"key":"e_1_2_6_7_2","first-page":"227","article-title":"Neuroepithelial cysts in a patient with Joubert syndrome plus renal cysts","volume":"19","author":"Marsh SE","year":"2004","journal-title":"J Child Neurol"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991029)86:5<459::AID-AJMG12>3.0.CO;2-C"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30294"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(98)00154-4"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1177\/088307389901401005"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2003.11.010"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.027375"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1086\/302655"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1086\/378206"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1086\/378241"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.014787"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1419"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1086\/425985"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1086\/421846"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.2884728"},{"key":"e_1_2_6_22_2","doi-asserted-by":"crossref","first-page":"812","DOI":"10.33588\/rn.3209.2000589","article-title":"Jouberts syndrome: report of 12 cases","volume":"32","author":"Barreirinho MS","year":"2001","journal-title":"Rev Neurol"},{"key":"e_1_2_6_23_2","first-page":"602","article-title":"Joubert syndrome and Meckel\u2010Gruber syndrome (MGS) are the same disorder in the Hutterite Brethren","volume":"75","author":"Innes AM","year":"2004","journal-title":"Am J Hum Genet"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.20422","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.20422","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,27]],"date-time":"2024-12-27T20:59:57Z","timestamp":1735333197000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.20422"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,3,22]]},"references-count":22,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2005,4]]}},"alternative-id":["10.1002\/ana.20422"],"URL":"https:\/\/doi.org\/10.1002\/ana.20422","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,3,22]]}}}