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Springer, Human Genetics, 1(134), p. 123-126, 2014

DOI: 10.1007/s00439-014-1508-3

Georg Thieme Verlag, Neuropediatrics, S 01(46)

DOI: 10.1055/s-0035-1550669

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

Journal article published in 2014 by Marta Romani, Francesca Mancini, Alessia Micalizzi, Andrea Poretti, Patrizia Accorsi, Elide Miccinilli, Emanuela Avola, Enrico Bertini, Renato Borgatti, Romina Romaniello, Serdar Ceylaner ORCID, Giangennaro Coppola, Stefano D’Arrigo, Lucio Giordano, Andreas R. Janecke ORCID and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Other ; 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.