SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome.

Abstract

Dyschondrosteosis is an autosomal dominant form of mesomelic dysplasia that is often combined with a deformity of the forearms called Madelung deformity. Based on the observation of X-Y translocations (p22,q12) in patients with dyschondrosteosis, the authors tested the pseudoautosomal region in eight affected families and showed linkage of the dyschondrosteosis gene to a microsatellite DNA marker at the DXYS233 locus (Zmax = 6.26 at theta = 0). Since the short stature homeobox-containing gene (SHOX) involved in idiopathic growth retardation and possibly Turner syndrome maps to this region, SHOX was regarded as a strong candidate gene for dyschondrosteosis. This article reports the detection of large-scale SHOX deletions in seven of the eight families and a nonsense mutation of SHOX in the remaining family affected with dyschondrosteosis. Additional evidence suggests that Langer mesomelic dwarfism results from homozygous mutations at the genetic locus responsible for dyschondrosteosis.

• Authors: V Cormier-Daire, V Belin, V Cusin, G Viot, D Girlich, A Toutain, A Moncla, M Vekemans, M Le Merrer, A Munnich
• Journal: Acta paediatrica (Oslo, Norway : 1992). Supplement (Acta Paediatr Suppl) Vol. 88 Issue 433 Pg. 55-9 (Dec 1999) ISSN: 0803-5326 [Print] Norway
• PMID: 10626546 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

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

Topics

• Bone Diseases (genetics)
• Child
• Chromosome Deletion
• Dwarfism (genetics)
• Forearm (abnormalities)
• Genetic Linkage
• Growth Disorders (genetics)
• Homeodomain Proteins (genetics)
• Humans
• Microsatellite Repeats
• Mutation
• Pedigree
• Short Stature Homeobox Protein
• Syndrome