1. Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
- Author
-
Alessia Micalizzi, Maja Steinlin, Patrizia Accorsi, Lorenzo Pinelli, Serdar Ceylaner, Eugen Boltshauser, Renato Borgatti, Franco Stanzial, Ronen Spiegel, Emanuela Avola, P Póo, Enrico Bertini, Tommaso Mazza, Giangennaro Coppola, Mario Lituania, Andrea Poretti, Loreto Martorell, Marta Romani, Nicole I. Wolf, Andreas R. Janecke, Sabrina Signorini, Elide Miccinilli, Kathrin Ludwig, Brahim Tabarki, Romina Romaniello, Sylvie Odent, Alessandro Simonati, Margherita Santucci, Francesca Mancini, Stefano D'Arrigo, Federica Zibordi, Enza Maria Valente, Lucio Giordano, Romani, Marta, Mancini, Francesca, Micalizzi, Alessia, Poretti, Andrea, Miccinilli, Elide, Accorsi, Patrizia, Avola, Emanuela, Bertini, Enrico, Borgatti, Renato, Romaniello, Romina, Ceylaner, Serdar, Coppola, Giangennaro, D’Arrigo, Stefano, Giordano, Lucio, Janecke, Andreas R., Lituania, Mario, Ludwig, Kathrin, Martorell, Loreto, Mazza, Tommaso, Odent, Sylvie, Pinelli, Lorenzo, Poo, Pilar, Santucci, Margherita, Signorini, Sabrina, Simonati, Alessandro, Spiegel, Ronen, Stanzial, Franco, Steinlin, Maja, Tabarki, Brahim, Wolf, Nicole I., Zibordi, Federica, Boltshauser, Eugen, Valente, Enza Maria, Cytogenetics, INGEMM, Institute of Medical and Molecular Genetics, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Division of Anatomic Pathology, Department of Critical Care Medicine and Surgery, University of Florence Medical School, Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI), Department of Neurological and Visual Sciences, University of Verona (UNIVR), Servizio aziendale di Consulenza Genetica, Ospedale di Bolzano, Pediatric surgery, NCA - Brain mechanisms in health and disease, Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Università degli Studi di Firenze = University of Florence (UniFI), and Università degli studi di Verona = University of Verona (UNIVR)
- Subjects
Male ,Proband ,Oral-facial-digital type VI syndrome ,[SDV]Life Sciences [q-bio] ,Joubert syndrome ,C5orf42 gene ,medicine.disease_cause ,Cohort Studies ,Cerebellum ,Genetics(clinical) ,Eye Abnormalities ,610 Medicine & health ,Orofaciodigital Syndrome ,Membrane Protein ,ComputingMilieux_MISCELLANEOUS ,Genetics (clinical) ,Genetics ,0303 health sciences ,Mutation ,Polydactyly ,030305 genetics & heredity ,Hypothalamic Disease ,Cerebellar Disease ,Kidney Diseases, Cystic ,Orofaciodigital Syndromes ,Major gene ,Phenotype ,Kidney Diseases ,Female ,Hypothalamic Diseases ,Human ,Hamartoma ,Short Report ,Biology ,Retina ,Follow-Up Studie ,Cystic ,03 medical and health sciences ,Genetic ,Hypothalamic hamartoma ,Cerebellar Diseases ,Family ,Follow-Up Studies ,Humans ,Membrane Proteins ,medicine ,Abnormalities, Multiple ,030304 developmental biology ,medicine.disease ,Eye Abnormalitie ,Cohort Studie - 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. Electronic supplementary material The online version of this article (doi:10.1007/s00439-014-1508-3) contains supplementary material, which is available to authorized users.
- Published
- 2014
- Full Text
- View/download PDF