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SHOX point mutations in dyschondrosteosis
  1. Céline Hubera,
  2. Veronica Cusina,
  3. Martine Le Merrera,
  4. Michèle Mathieub,
  5. Véronique Sulmontc,
  6. Nathalie Dagoneaua,
  7. Arnold Munnicha,
  8. Valérie Cormier-Dairea
  1. aDepartment of Genetics and INSERM U393, Hôpital Necker Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France, bService de Génétique, Amiens, France, cDepartment of Pediatrics, American Memorial Hospital, Reims, France
  1. Dr Cormier-Daire, cormier{at}necker.fr

https://doi.org/10.1136/jmg.38.5.323

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    Dyschondrosteosis (DCS) has been recently ascribed to mutations of the SHOX gene on the pseudoautosomal region of the X and Y chromosomes.1 2 Most cases are accounted for by large scale deletions3-7 and only two point mutations have been hitherto identified in exon 4 (R195 X and Y199X1 2). Here, we show that point mutations in various regions of the SHOX gene also play an important role in the pathogenesis of the disease.

    A total of 22 affected subjects belonging to eight families were included in the study. Inclusion criteria for affected status were short stature (2 SD below normal) with short forelimbs …

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