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pubmed-article:10626546pubmed:abstractTextDyschondrosteosis 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.lld:pubmed
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pubmed-article:10626546pubmed:dateRevised2010-11-18lld:pubmed
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pubmed-article:10626546pubmed:articleTitleSHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome.lld:pubmed
pubmed-article:10626546pubmed:affiliationDépartement de Génétique, INSERM U 393, Hôpital des Enfants Malades, Paris, France.lld:pubmed
pubmed-article:10626546pubmed:publicationTypeJournal Articlelld:pubmed
pubmed-article:10626546pubmed:publicationTypeResearch Support, Non-U.S. Gov'tlld:pubmed
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