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Comparative Study
. 2015 Jan;134(1):123-6.
doi: 10.1007/s00439-014-1508-3. Epub 2014 Nov 19.

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

Marta Romani  1 , 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
Affiliations
Comparative Study

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

Marta Romani et al. Hum Genet. 2015 Jan.

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.

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Figures

Fig. 1
Fig. 1
Schematic representation of C5orf42 protein structure and distribution of all reported mutations. The two predicted transmembrane domains (TM, amino acids 592–612 and 631–651) and the two predicted coiled coil domains (CCD, amino acids 2,457–2,487 and 2,691–2,724) are shown. Mutations found in patients with pure Joubert syndrome and with OFDVI are presented in the upper and lower parts of the figure, respectively. Mutations identified in the present study are in bold. In brackets are the numbers of patients in whom each mutation has been identified. Asterisk indicates clinical data not available
See this image and copyright information in PMC

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