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Hum Genet. 2015 Jan;134(1):123-6. doi: 10.1007/s00439-014-1508-3. Epub 2014 Nov 19.

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

Author information

1
Lab. Mendel, IRCCS Casa Sollievo della Sofferenza, Viale Regina Margherita 261, 00198, Rome, Italy, m.romani@css-mendel.it.

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.

PMID:
25407461
PMCID:
PMC4282684
DOI:
10.1007/s00439-014-1508-3
[Indexed for MEDLINE]
Free PMC Article

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