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SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

Nature Genetics volume 19, pages 67–69 (1998)Cite this article

Abstract

Dyschondrosteosis1 (DCS) is an autosomal dominant2 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 DMA marker at the DXYS233 locus (Zmax=6.26 at θ=0). The short stature homeobox-containing gene7,8 (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 dwarfism9 results from homozygous mutations at the DCS locus.

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Authors and Affiliations

  1. Département de Génétique et Unitéde Recherches sur les Handicaps Génétiques de I'Enfant INSERM U393, Hôpital des Enfants Malades, Paris, France

    Valérie Belin, Veronica Cusin, Géraldine Viot, Delphine Girlich, Michel Vekemans, Martine Le Merrer, Arnold Munnich & Valérie Cormier-Daire

  2. Service de Génétique, Hôpital de Clocheville, Tours, France

    Annick Toutain

  3. Département de Génétique, Hôpital de La Timone, Marseille, France

    Anne Moncla

Authors
  1. Valérie Belin
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  2. Veronica Cusin
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  3. Géraldine Viot
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  4. Delphine Girlich
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  5. Annick Toutain
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  6. Anne Moncla
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  7. Michel Vekemans
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  8. Martine Le Merrer
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  9. Arnold Munnich
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  10. Valérie Cormier-Daire
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Correspondence to Arnold Munnich.

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Belin, V., Cusin, V., Viot, G. et al. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome) . Nat Genet 19, 67–69 (1998). https://doi.org/10.1038/ng0198-67

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