Laboratory Mendel

Santa Margherita di Belice, Italy

Laboratory Mendel

Santa Margherita di Belice, Italy
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Romani M.,Laboratory Mendel | Mancini F.,Laboratory Mendel | Micalizzi A.,Laboratory Mendel | Micalizzi A.,Messina University | And 32 more authors.
Human Genetics | Year: 2014

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. © 2014, The Author(s).


PubMed | Laboratory Mendel
Type: Comparative Study | Journal: Human genetics | Year: 2015

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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