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 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

doi:10.1007/s00439-014-1508-3

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 journal › Article › peer-review

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.

Original language	English
Pages (from-to)	123-126
Number of pages	4
Journal	Human Genetics
Volume	134
Issue number	1
DOIs	https://doi.org/10.1007/s00439-014-1508-3
Publication status	Published - 2014

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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Romani, M., Mancini, F., Micalizzi, A., Poretti, A., Miccinilli, E., Accorsi, P., Avola, E., Bertini, E., Borgatti, R., Romaniello, R., Ceylaner, S., Coppola, G., D’Arrigo, S., Giordano, L., Janecke, A. R., Lituania, M., Ludwig, K., Martorell, L., Mazza, T., ... Valente, E. M. (2014). Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? Human Genetics, 134(1), 123-126. https://doi.org/10.1007/s00439-014-1508-3

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

In: Human Genetics, Vol. 134, No. 1, 2014, p. 123-126.

Research output: Contribution to journal › Article › peer-review

Romani, M, Mancini, F, Micalizzi, A, Poretti, A, Miccinilli, E, Accorsi, P, Avola, E , Bertini, E , Borgatti, R , Romaniello, R, Ceylaner, S, Coppola, G, D’Arrigo, S, Giordano, L, Janecke, AR, Lituania, M, Ludwig, K, Martorell, L, Mazza, T, Odent, S, Pinelli, L, Poo, P, Santucci, M , Signorini, S, Simonati, A, Spiegel, R, Stanzial, F, Steinlin, M, Tabarki, B, Wolf, NI, Zibordi, F, Boltshauser, E & Valente, EM 2014, 'Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?', Human Genetics, vol. 134, no. 1, pp. 123-126. https://doi.org/10.1007/s00439-014-1508-3

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. / Oral-facial-digital syndrome type VI : is C5orf42 really the major gene?. In: Human Genetics. 2014 ; Vol. 134, No. 1. pp. 123-126.

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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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AU - Miccinilli, Elide

AU - Accorsi, Patrizia

AU - Avola, Emanuela

AU - Bertini, Enrico

AU - Borgatti, Renato

AU - Romaniello, Romina

AU - Ceylaner, Serdar

AU - Coppola, Giangennaro

AU - D’Arrigo, Stefano

AU - Giordano, Lucio

AU - Janecke, Andreas R.

AU - Lituania, Mario

AU - Ludwig, Kathrin

AU - Martorell, Loreto

AU - Mazza, Tommaso

AU - Odent, Sylvie

AU - Pinelli, Lorenzo

AU - Poo, Pilar

AU - Santucci, Margherita

AU - Signorini, Sabrina

AU - Simonati, Alessandro

AU - Spiegel, Ronen

AU - Stanzial, Franco

AU - Steinlin, Maja

AU - Tabarki, Brahim

AU - Wolf, Nicole I.

AU - Zibordi, Federica

AU - Boltshauser, Eugen

AU - Valente, Enza Maria

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