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; ... (2015). Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? Human genetics, 134(1), pp. 123-126. Springer 10.1007/s00439-014-1508-3

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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.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine

UniBE Contributor:

Steinlin, Maja

Subjects:

600 Technology > 610 Medicine & health

ISSN:

0340-6717

Publisher:

Springer

Language:

English

Submitter:

André Schaller

Date Deposited:

11 Apr 2016 10:00

Last Modified:

11 Apr 2016 10:00

Publisher DOI:

10.1007/s00439-014-1508-3

PubMed ID:

25407461

BORIS DOI:

10.7892/boris.79375

URI:

https://boris.unibe.ch/id/eprint/79375

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