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

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

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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple
  • Cerebellar Diseases / genetics*
  • Cerebellar Diseases / pathology
  • Cerebellum / abnormalities
  • Cohort Studies
  • Eye Abnormalities / genetics*
  • Eye Abnormalities / pathology
  • Family
  • Female
  • Follow-Up Studies
  • Hamartoma / genetics*
  • Hamartoma / pathology
  • Humans
  • Hypothalamic Diseases / genetics*
  • Hypothalamic Diseases / pathology
  • Kidney Diseases, Cystic / genetics*
  • Kidney Diseases, Cystic / pathology
  • Male
  • Membrane Proteins / genetics*
  • Mutation / genetics*
  • Orofaciodigital Syndromes / genetics*
  • Orofaciodigital Syndromes / pathology
  • Phenotype
  • Retina / abnormalities*
  • Retina / pathology

Substances

  • CPLANE1 protein, human
  • Membrane Proteins

Supplementary concepts

  • Agenesis of Cerebellar Vermis
  • Hypothalamic hamartomas
  • Orofaciodigital syndrome 6