Article
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Human genetics - 1 Jan 2015
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
Abstract excerpt
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...
Topics
- Abnormalities, Multiple
- Cerebellar Diseases
- Cerebellum
- Cohort Studies
- Eye Abnormalities
- Family
- Female
- Follow-Up Studies