{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T16:02:44Z","timestamp":1791216164803,"version":"4.1.0"},"reference-count":56,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,7,19]],"date-time":"2017-07-19T00:00:00Z","timestamp":1500422400000},"content-version":"am","delay-in-days":296,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#am"},{"start":{"date-parts":[[2016,9,26]],"date-time":"2016-09-26T00:00:00Z","timestamp":1474848000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002241","name":"Japan Science and Technology Agency","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002241","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:p>Joubert syndrome (<jats:styled-content style=\"fixed-case\">JS<\/jats:styled-content>) is rare recessive disorders characterized by the combination of hypoplasia\/aplasia of the cerebellar vermis, thickened and elongated superior cerebellar peduncles, and a deep interpeduncular fossa which is defined by neuroimaging and is termed the \u2018molar tooth sign\u2019. <jats:styled-content style=\"fixed-case\">JS<\/jats:styled-content> is genetically highly heterogeneous, with at least 29 disease genes being involved. To further understand the genetic causes of <jats:styled-content style=\"fixed-case\">JS<\/jats:styled-content>, we performed whole\u2010exome sequencing in 24 newly recruited <jats:styled-content style=\"fixed-case\">JS<\/jats:styled-content> families. Together with six previously reported families, we identified causative mutations in 25 out of 30 (24\u2009+\u20096) families (83.3%). We identified eight mutated genes in 27 (21\u2009+\u20096) Japanese families, <jats:italic><jats:styled-content style=\"fixed-case\">TMEM67<\/jats:styled-content><\/jats:italic> (7\/27, 25.9%) and <jats:italic><jats:styled-content style=\"fixed-case\">CEP290<\/jats:styled-content><\/jats:italic> (6\/27, 22.2%) were the most commonly mutated. Interestingly, 9 of 12 <jats:italic><jats:styled-content style=\"fixed-case\">CEP290<\/jats:styled-content><\/jats:italic> disease alleles were c.6012\u2010<jats:styled-content style=\"fixed-case\">12T<\/jats:styled-content>&gt;A (75.0%), an allele that has not been reported in non\u2010Japanese populations. Therefore c.6012\u2010<jats:styled-content style=\"fixed-case\">12T<\/jats:styled-content>&gt;A is a common allele in the Japanese population. Importantly, one Japanese and one Omani families carried compound biallelic mutations in two distinct genes (<jats:italic><jats:styled-content style=\"fixed-case\">TMEM67<\/jats:styled-content><\/jats:italic>\/<jats:italic><jats:styled-content style=\"fixed-case\">RPGRIP1L<\/jats:styled-content><\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">TMEM138<\/jats:styled-content><\/jats:italic>\/<jats:italic><jats:styled-content style=\"fixed-case\">BBS1<\/jats:styled-content><\/jats:italic>, respectively). <jats:italic><jats:styled-content style=\"fixed-case\">BBS1<\/jats:styled-content><\/jats:italic> is the causative gene in Bardet\u2013Biedl syndrome. These concomitant mutations led to severe and\/or complex clinical features in the patients, suggesting combined effects of different mutant genes.<\/jats:p>","DOI":"10.1111\/cge.12836","type":"journal-article","created":{"date-parts":[[2016,7,19]],"date-time":"2016-07-19T15:17:51Z","timestamp":1468941471000},"page":"526-535","source":"Crossref","is-referenced-by-count":50,"title":["Molecular genetic analysis of 30 families with Joubert syndrome"],"prefix":"10.1111","volume":"90","author":[{"given":"T.","family":"Suzuki","sequence":"first","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"},{"name":"Department of Obstetrics and Gynecology Juntendo University Faculty of Medicine  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Miyake","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama 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