Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

• DOI: 10.1007/s00439-014-1508-3
• Publication Date: 2014-11-21T16:25:27Z
• Authors: Marta Romani; Francesca Mancini; Alessia Micalizzi; Andrea Poretti; Elide Miccinilli; Patrizia Accorsi; Emanuela Avola; Enrico Bertini; Renato Borgatti; Romina Romaniello; Serdar Ceylaner; Giangennaro Coppola; Stefano D’Arrigo; Lucio Giordano; Andreas R. Janecke; Mario Lituania; Kathrin Ludwig; Loreto Martorell; Tommaso Mazza; Sylvie Odent; Lorenzo Pinelli; Pilar Poo; Margherita Santucci; Sabrina Signorini; Alessandro Simonati; Ronen Spiegel; Franco Stanzial; Maja Steinlin; Brahim Tabarki; Nicole I. Wolf; Federica Zibordi; Eugen Boltshauser; Enza Maria Valente
• Keywords: Polydactyly; Hamartoma; Proband

Oral-facial-digital type VI syndrome (OFDVI) is a rare phenotype of Joubert (JS). Recently, C5orf42 was suggested as the major OFDVI gene, being mutated in 9 11 families (82 %). We sequenced 313 JS probands and identified mutations 28 (8.9 %), most with pure JS. Only 2 out 17 patients (11.7 %) were mutated. A comparison vs. non-mutated showed that preaxial mesoaxial polydactyly, hypothalamic hamartoma other congenital defects may predict mutations, while tongue hamartomas are more common negative patients.