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

School of Medicine

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

18 Scopus citations

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 (US)
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
State	Published - Jan 1 2015

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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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. (2015). 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

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 2015, '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

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title = "Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?",

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.",

author = "Marta Romani and Francesca Mancini and Alessia Micalizzi and Andrea Poretti and Elide Miccinilli and Patrizia Accorsi and Emanuela Avola and Enrico Bertini and Renato Borgatti and Romina Romaniello and Serdar Ceylaner and Giangennaro Coppola and Stefano D{\textquoteright}Arrigo and Lucio Giordano and Janecke, {Andreas R.} and Mario Lituania and Kathrin Ludwig and Loreto Martorell and Tommaso Mazza and Sylvie Odent and Lorenzo Pinelli and Pilar Poo and Margherita Santucci and Sabrina Signorini and Alessandro Simonati and Ronen Spiegel and Franco Stanzial and Maja Steinlin and Brahim Tabarki and Wolf, {Nicole I.} and Federica Zibordi and Eugen Boltshauser and Valente, {Enza Maria}",

note = "Funding Information: This work was partly supported by grants from the European Research Council (ERC Starting Grant 260888), the Telethon Foundation Italy (Grant GGP13146), and the Italian Ministry of Health (Ricerca Corrente 2014, Ricerca Finalizzata Malattie Rare 2008). Publisher Copyright: {\textcopyright} 2015, The Author(s).",

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doi = "10.1007/s00439-014-1508-3",

language = "English (US)",

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T1 - Oral-facial-digital syndrome type VI

T2 - is C5orf42 really the major gene?

AU - Romani, Marta

AU - Mancini, Francesca

AU - Micalizzi, Alessia

AU - Poretti, Andrea

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

N1 - Funding Information: This work was partly supported by grants from the European Research Council (ERC Starting Grant 260888), the Telethon Foundation Italy (Grant GGP13146), and the Italian Ministry of Health (Ricerca Corrente 2014, Ricerca Finalizzata Malattie Rare 2008). Publisher Copyright: © 2015, The Author(s).

PY - 2015/1/1

Y1 - 2015/1/1

N2 - 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.

AB - 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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ER -

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

Abstract

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