Dysspondyloenchondromatosis without COL2A1 mutation: possible genetic heterogeneity

Am J Med Genet A. 2014 Mar;164A(3):769-73. doi: 10.1002/ajmg.a.36331. Epub 2013 Dec 19.


Dysspondyloenchondromatosis is a rare form of generalized enchondromatosis associated with spinal involvement. This skeletal dysplasia is characterized by multiple enchondromas present in vertebrae as well as in metaphyseal and diaphyseal parts of the long tubular bones, post-natal short stature, and early development of kyphoscoliosis. A novel heterozygous missense mutation in COL2A1 was recently identified in a patient with dysspondyloenchondromatosis. This suggests that dysspondyloenchondromatosis might expand the already broad spectrum of type II collagenopathies. Here, we report on a young girl with features of dysspondyloenchondromatosis, specifically short stature, thoracoscoliosis, and generalized enchondromas lesions. Sanger sequencing failed to detect a mutation in COL2A1. We therefore suggest that dysspondyloenchondromatosis is a genetically heterogeneous condition.

Keywords: COL2A1 gene; dysspondyloenchondromatosis; skeletal dysplasia.

Publication types

  • Case Reports

MeSH terms

  • Bone and Bones / diagnostic imaging
  • Bone and Bones / pathology
  • Child, Preschool
  • Collagen Type II / genetics
  • Enchondromatosis / diagnosis*
  • Enchondromatosis / genetics*
  • Facies
  • Female
  • Genetic Heterogeneity*
  • Humans
  • Mutation
  • Phenotype
  • Radiography
  • Spine / pathology


  • COL2A1 protein, human
  • Collagen Type II