SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

Nat Genet. 1998 May;19(1):67-9. doi: 10.1038/ng0198-67.


Dyschondrosteosis (DCS) is an autosomal dominant form of mesomelic dysplasia with deformity of the forearm (Madelung deformity; ref. 3). Based on the observation of XY translocations (p22,q12; refs 4-6) in DCS patients, we tested the pseudoautosomal region in eight families with DCS and showed linkage of the DCS gene to a microsatellite DNA marker at the DXYS233 locus (Zmax=6.26 at theta=0). The short stature homeobox-containing gene (SHOX), involved in idiopathic growth retardation and possibly Turner short stature, maps to this region and was therefore regarded as a strong candidate gene in DCS. Here, we report large-scale deletions (in seven families) and a nonsense mutation (in one family) of SHOX in patients with DCS and show that Langer mesomelic dwarfism results from homozygous mutations at the DCS locus.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • Genotype
  • Homeodomain Proteins / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Osteochondrodysplasias / genetics*
  • Pedigree
  • Short Stature Homeobox Protein
  • Translocation, Genetic
  • X Chromosome
  • Y Chromosome


  • Homeodomain Proteins
  • SHOX protein, human
  • Short Stature Homeobox Protein

Associated data

  • GENBANK/U82668