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

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 OdentLorenzo 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

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)123-126
Number of pages4
JournalHuman Genetics
Issue number1
Publication statusPublished - 2014

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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