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

Creative Commons License

Romani M., Mancini F., Micalizzi A., Poretti A., Miccinilli E., Accorsi P., ...More

Human Genetics, vol.134, no.1, pp.123-126, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 134 Issue: 1
  • Publication Date: 2015
  • Doi Number: 10.1007/s00439-014-1508-3
  • Journal Name: Human Genetics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.123-126
  • Lokman Hekim University Affiliated: No

Abstract

© 2015, The Author(s).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.