title: Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
abstract: Oral-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.
authors.affiliation: Lab. Mendel, IRCCS Casa Sollievo della Sofferenza, Viale Regina Margherita 261, 00198, Rome, Italy, m.romani@css-mendel.it.
authors.forename: Marta
authors.initials: M
authors.lastname: Romani
authors.forename: Francesca
authors.initials: F
authors.lastname: Mancini
authors.forename: Alessia
authors.initials: A
authors.lastname: Micalizzi
authors.forename: Andrea
authors.initials: A
authors.lastname: Poretti
authors.forename: Elide
authors.initials: E
authors.lastname: Miccinilli
authors.forename: Patrizia
authors.initials: P
authors.lastname: Accorsi
authors.forename: Emanuela
authors.initials: E
authors.lastname: Avola
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.forename: Renato
authors.initials: R
authors.lastname: Borgatti
authors.forename: Romina
authors.initials: R
authors.lastname: Romaniello
authors.forename: Serdar
authors.initials: S
authors.lastname: Ceylaner
authors.forename: Giangennaro
authors.initials: G
authors.lastname: Coppola
authors.forename: Stefano
authors.initials: S
authors.lastname: D'Arrigo
authors.forename: Lucio
authors.initials: L
authors.lastname: Giordano
authors.forename: Andreas R
authors.initials: AR
authors.lastname: Janecke
authors.forename: Mario
authors.initials: M
authors.lastname: Lituania
authors.forename: Kathrin
authors.initials: K
authors.lastname: Ludwig
authors.forename: Loreto
authors.initials: L
authors.lastname: Martorell
authors.forename: Tommaso
authors.initials: T
authors.lastname: Mazza
authors.forename: Sylvie
authors.initials: S
authors.lastname: Odent
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Pinelli
authors.forename: Pilar
authors.initials: P
authors.lastname: Poo
authors.forename: Margherita
authors.initials: M
authors.lastname: Santucci
authors.forename: Sabrina
authors.initials: S
authors.lastname: Signorini
authors.forename: Alessandro
authors.initials: A
authors.lastname: Simonati
authors.forename: Ronen
authors.initials: R
authors.lastname: Spiegel
authors.forename: Franco
authors.initials: F
authors.lastname: Stanzial
authors.forename: Maja
authors.initials: M
authors.lastname: Steinlin
authors.forename: Brahim
authors.initials: B
authors.lastname: Tabarki
authors.forename: Nicole I
authors.initials: NI
authors.lastname: Wolf
authors.forename: Federica
authors.initials: F
authors.lastname: Zibordi
authors.forename: Eugen
authors.initials: E
authors.lastname: Boltshauser
authors.forename: Enza Maria
authors.initials: EM
authors.lastname: Valente
mesh_terms: D000015:Abnormalities, Multiple; D002526:Cerebellar Diseases / Q000235:genetics* / Q000473:pathology; D002531:Cerebellum / Q000002:abnormalities; D015331:Cohort Studies; D005124:Eye Abnormalities / Q000235:genetics* / Q000473:pathology; D005190:Family; D005260:Female; D005500:Follow-Up Studies; D006222:Hamartoma / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007027:Hypothalamic Diseases / Q000235:genetics* / Q000473:pathology; D052177:Kidney Diseases, Cystic / Q000235:genetics* / Q000473:pathology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009958:Orofaciodigital Syndromes / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D012160:Retina / Q000002:abnormalities* / Q000473:pathology
chemical_list: C572460:CPLANE1 protein, human; D008565:Membrane Proteins