A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia

Am J Med Genet. 1996 May 3;63(1):123-8. doi: 10.1002/(SICI)1096-8628(19960503)63:1<123::AID-AJMG22>3.0.CO;2-P.


We report on a patient with a skeletal dysplasia characterized by short stature, spondylo-epiphyseal involvement, and brachydactyly E-like changes. This condition has been described as spondyloperipheral dysplasia and the few published cases suggest autosomal dominant inheritance with considerable clinical variability. We found our sporadic case to be due to a collagen type II defect resulting from a specific COL2A1 mutation. This mutation is the first to be located at the C-terminal outside the helical domain of COL2A1. A frameshift as consequence of a 5 bp duplication in exon 51 leads to a stop codon. The resulting truncated C-propeptide region seems to affect helix formation and produces changes of chondrocyte morphology, collagen type II fibril structure and cartilage matrix composition. Our case with its distinct phenotype adds another chondrodysplasia to the clinical spectrum of type II collagenopathies.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Bone Development
  • Bone and Bones / diagnostic imaging
  • Bone and Bones / pathology
  • Collagen / genetics*
  • DNA / blood
  • Endoplasmic Reticulum, Rough / pathology
  • Endoplasmic Reticulum, Rough / ultrastructure
  • Exons
  • Female
  • Frameshift Mutation*
  • Growth Plate / pathology*
  • Growth Plate / ultrastructure
  • Humans
  • Ilium
  • Infant, Newborn
  • Leukocytes / metabolism
  • Microscopy, Electron
  • Molecular Sequence Data
  • Osteochondrodysplasias / diagnostic imaging
  • Osteochondrodysplasias / genetics*
  • Osteochondrodysplasias / pathology
  • Polymerase Chain Reaction
  • Radiography


  • Collagen
  • DNA