Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH

Am J Med Genet A. 2010 Dec;152A(12):3124-8. doi: 10.1002/ajmg.a.33567.

Abstract

We describe a patient with striking generalized symmetrical enchondromatosis of the tubular bones and a de novo duplication of chromosome 12p11.23 to 12p11.22. The PTHLH gene within this region encodes a ligand for PTHR1: mutations in the gene encoding this receptor are associated with some cases of Ollier disease, several skeletal dysplasias including Blomstrand, Eiken, and Jansen and down-regulation of PTHLH expression in brachydactyly type E. Our findings suggest that abnormal PTHLH-PTHR1 signaling may underly this unusual form of enchondromatosis and indicate that unlike most cases of Ollier disease it is dominantly inherited.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Bone Diseases, Developmental / diagnostic imaging
  • Bone Diseases, Developmental / genetics
  • Bone and Bones / diagnostic imaging
  • Bone and Bones / metabolism
  • Chromosome Duplication*
  • Chromosomes, Human, Pair 12*
  • Comparative Genomic Hybridization
  • DNA / genetics
  • Down-Regulation
  • Enchondromatosis / diagnostic imaging
  • Enchondromatosis / genetics*
  • Enchondromatosis / metabolism
  • Female
  • Genes, Dominant
  • Humans
  • In Situ Hybridization, Fluorescence
  • Mutation
  • Oligonucleotide Array Sequence Analysis
  • Parathyroid Hormone-Related Protein / genetics*
  • Radiography
  • Receptor, Parathyroid Hormone, Type 1 / genetics
  • Signal Transduction / genetics

Substances

  • PTH1R protein, human
  • PTHLH protein, human
  • Parathyroid Hormone-Related Protein
  • Receptor, Parathyroid Hormone, Type 1
  • DNA