Some chondrodysplasias with short limbs: molecular perspectives

Am J Med Genet. 2002 Oct 15;112(3):304-13. doi: 10.1002/ajmg.10780.

Abstract

A table of molecularly defined chondrodysplasias with short limbs is provided. Several are discussed in detail, including osteogenesis imperfecta and type I collagen mutations, Jansen metaphyseal chondrodysplasia and parathyroid hormone/parathyroid hormone-related protein receptor mutation, and chondrodysplasias caused by fibroblast growth factor receptor 3 mutations. The latter group includes achondroplasia, hypochondroplasia, thanatophoric dysplasia (types 1 and 2), San Diego platyspondylic dysplasia, and SADDAN.

Publication types

  • Review

MeSH terms

  • Achondroplasia / genetics
  • Achondroplasia / metabolism
  • Achondroplasia / pathology
  • Cell Differentiation
  • Chondrocytes / pathology
  • Collagen Type I / chemistry
  • Collagen Type I / genetics
  • Humans
  • Limb Deformities, Congenital / genetics*
  • Limb Deformities, Congenital / pathology
  • Models, Biological
  • Mutation
  • Osteochondrodysplasias / genetics*
  • Osteochondrodysplasias / metabolism
  • Osteochondrodysplasias / pathology
  • Osteogenesis Imperfecta / genetics
  • Phenotype
  • Protein-Tyrosine Kinases*
  • Receptor, Fibroblast Growth Factor, Type 3
  • Receptors, Fibroblast Growth Factor / genetics
  • Thanatophoric Dysplasia / genetics
  • Thanatophoric Dysplasia / metabolism
  • Thanatophoric Dysplasia / pathology

Substances

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