Discondrosteosis de Leri-Weill: Mutación en gen SHOX y expresividad variable

• Autores: I. Llano Rivas, Joaquín Fernández Toral, Isabel Navarro Vera
• Localización: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), ISSN-e 1696-4608, ISSN 1695-4033, Vol. 74, Nº. 6, 2011, págs. 405-408
• Idioma: español
• Títulos paralelos:
  • Leri-Weill dyschondrosteosis: A variable expression SHOX gene mutation
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• Resumen

  • Introduction A mesomelic dysplasia with shortened limbs was first described by Leri and Weill in 1929. Since then the causal gene has been known as SHOX (short stature homeobox) gene, located in Xp22 and Yp11.3, with mutations being identified in between 56% and 100% of the patients.

    Patients and methods One of the observations is familial and the other is an isolated case. The diagnosis in both cases was clinical, supported by radiology and a molecular study of the SHOX gene using multiplex ligation-dependent probe amplification (MLPA).

    Conclusions Knowledge of this condition has therapeutic implications, given the favourable progress with growth hormone treatment, as well as possible surgical procedures and genetic counselling, due to its autosomal dominant hereditary character.