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) |
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Pages (from-to) | 123-126 |
Number of pages | 4 |
Journal | Human genetics |
Volume | 134 |
Issue number | 1 |
DOIs | |
State | Published - Jan 1 2015 |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)