TY - JOUR
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
PY - 2014
Y1 - 2014
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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U2 - 10.1007/s00439-014-1508-3
DO - 10.1007/s00439-014-1508-3
M3 - Article
C2 - 25407461
AN - SCOPUS:84922103270
VL - 134
SP - 123
EP - 126
JO - Human Genetics
JF - Human Genetics
SN - 0340-6717
IS - 1
ER -