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

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

Human Genetics, cilt.134, sa.1, ss.123-126, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 134 Sayı: 1
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1007/s00439-014-1508-3
  • Dergi Adı: Human Genetics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.123-126
  • Lokman Hekim Üniversitesi Adresli: Hayır

Özet

© 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.