Romani, MartaMartaRomaniMancini, FrancescaFrancescaManciniMicalizzi, AlessiaAlessiaMicalizziPoretti, AndreaAndreaPorettiMiccinilli, ElideElideMiccinilliAccorsi, PatriziaPatriziaAccorsiAvola, EmanuelaEmanuelaAvolaBertini, EnricoEnricoBertiniBorgatti, RenatoRenatoBorgattiRomaniello, RominaRominaRomanielloCeylaner, SerdarSerdarCeylanerCoppola, GiangennaroGiangennaroCoppolaD'Arrigo, StefanoStefanoD'ArrigoGiordano, LucioLucioGiordanoJanecke, Andreas RAndreas RJaneckeLituania, MarioMarioLituaniaLudwig, KathrinKathrinLudwigMartorell, LoretoLoretoMartorellMazza, TommasoTommasoMazzaOdent, SylvieSylvieOdentPinelli, LorenzoLorenzoPinelliPoo, PilarPilarPooSantucci, MargheritaMargheritaSantucciSignorini, SabrinaSabrinaSignoriniSimonati, AlessandroAlessandroSimonatiSpiegel, RonenRonenSpiegelStanzial, FrancoFrancoStanzialSteinlin, MajaMajaSteinlinTabarki, BrahimBrahimTabarkiWolf, Nicole INicole IWolfZibordi, FedericaFedericaZibordiBoltshauser, EugenEugenBoltshauserValente, Enza MariaEnza MariaValente2024-10-242024-10-242015-01https://boris-portal.unibe.ch/handle/20.500.12422/140126Oral-facial-digital type VI syndrome (OFDVI) is a rare phenotype of Joubert syndrome (JS). Recently, C5orf42 was suggested as the major OFDVI gene, being mutated in 9 of 11 families (82 %). We sequenced C5orf42 in 313 JS probands and identified mutations in 28 (8.9 %), most with a phenotype of pure JS. Only 2 out of 17 OFDVI patients (11.7 %) were mutated. A comparison of mutated vs. non-mutated OFDVI patients showed that preaxial and mesoaxial polydactyly, hypothalamic hamartoma and other congenital defects may predict C5orf42 mutations, while tongue hamartomas are more common in negative patients.en600 - Technology::610 - Medicine & healtharticle10.7892/boris.793752540746110.1007/s00439-014-1508-3