[Clinical and molecular genetic observations on families with cherubism over three generations]

Mund Kiefer Gesichtschir. 2003 Mar;7(2):83-7. doi: 10.1007/s10006-002-0444-x. Epub 2003 Jan 11.
[Article in German]

Abstract

Background: Cherubism is a rare fibro-osseous disorder that almost exclusively affects the maxilla and mandible.

Case report: We report on three affected males in three generations in family A, and ten affected patients in family B. The youngest affected relative in family A also had craniosynostosis. His father and grandfather had cherubism and clubbed fingers.

Results and discussion: Cherubism was mapped to region 4p16.3. Because of the associated craniosynostosis, we excluded the FGFR3 gene as a candidate gene for cherubism. The inheritance pattern is autosomal dominant with variable expression. The penetrance is 100% in males and 50-70% in females. We found incomplete penetrance in males, which does not conform with all publications.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adolescent
  • Adult
  • Cherubism / diagnosis
  • Cherubism / genetics*
  • Child
  • Child, Preschool
  • Chromosome Aberrations
  • Chromosomes, Human, Pair 4
  • Combined Modality Therapy
  • Craniosynostoses / diagnosis
  • Craniosynostoses / genetics
  • Craniosynostoses / therapy
  • Female
  • Follow-Up Studies
  • Genes, Dominant
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Infant
  • Male
  • Orthodontics, Corrective
  • Osteoarthropathy, Secondary Hypertrophic / diagnosis
  • Osteoarthropathy, Secondary Hypertrophic / genetics
  • Pedigree
  • Protein-Tyrosine Kinases*
  • Receptor, Fibroblast Growth Factor, Type 3
  • Receptors, Fibroblast Growth Factor / genetics
  • Tooth Abnormalities / diagnosis
  • Tooth Abnormalities / genetics
  • Tooth Abnormalities / therapy

Substances

  • Receptors, Fibroblast Growth Factor
  • FGFR3 protein, human
  • Protein-Tyrosine Kinases
  • Receptor, Fibroblast Growth Factor, Type 3