{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T01:56:53Z","timestamp":1790042213084,"version":"4.0.1"},"reference-count":18,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,2,1]],"date-time":"2006-02-01T00:00:00Z","timestamp":1138752000000},"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":[[2006,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title><jats:styled-content><jats:italic>Objective<\/jats:italic><\/jats:styled-content><\/jats:title><jats:p>Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. It is characterized by hypoplasia of the cerebellar vermis and a particular midbrain\u2010hindbrain \u201cmolar tooth\u201d sign, a finding shared by a group of Joubert syndrome\u2013related disorders (JSRDs), with wide phenotypic variability. The frequency of mutations in the first positionally cloned gene, <jats:italic>AHI1<\/jats:italic>, is unknown.<\/jats:p><\/jats:sec><jats:sec><jats:title><jats:styled-content><jats:italic>Methods<\/jats:italic><\/jats:styled-content><\/jats:title><jats:p>We searched for mutations in the <jats:italic>AHI1<\/jats:italic> gene among a cohort of 137 families with JSRD and radiographically proven molar tooth sign.<\/jats:p><\/jats:sec><jats:sec><jats:title><jats:styled-content><jats:italic>Results<\/jats:italic><\/jats:styled-content><\/jats:title><jats:p>We identified 15 deleterious mutations in 10 families with pure JS or JS plus retinal and\/or additional central nervous system abnormalities. Mutations among families with JSRD including kidney or liver involvement were not detected. Transheterozygous mutations were identified in the majority of those without history of consanguinity. Most mutations were truncating or splicing errors, with only one missense mutation in the highly conserved WD40 repeat domain that led to disease of similar severity.<\/jats:p><\/jats:sec><jats:sec><jats:title><jats:styled-content><jats:italic> Interpretation<\/jats:italic><\/jats:styled-content><\/jats:title><jats:p><jats:italic>AHI1<\/jats:italic> mutations are a frequent cause of disease in patients with specific forms of JSRD. Ann Neurol 2006<\/jats:p><\/jats:sec>","DOI":"10.1002\/ana.20749","type":"journal-article","created":{"date-parts":[[2006,2,1]],"date-time":"2006-02-01T22:17:00Z","timestamp":1138832220000},"page":"527-534","source":"Crossref","is-referenced-by-count":122,"title":["<i>AHI1<\/i> gene mutations cause specific forms of Joubert syndrome\u2013related disorders"],"prefix":"10.1002","volume":"59","author":[{"given":"Enza Maria","family":"Valente","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Brancati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer L.","family":"Silhavy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Castori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah E.","family":"Marsh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Barrano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugen","family":"Boltshauser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha S.","family":"Zaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Abdel\u2010Aleem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghada M. 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