Mutación en el gen EDA1, Ala349Thr en paciente con displasia ectodérmica hipohidrótica ligada a X

• Julio C Salas-Alanis ^[1] ; Rodrigo Cepeda-Valdés ^[2] ; Adriana González-Santos ^[3] ; Mario Amaya-Guerra ^[3] ; Mazen Kurban ^[2] ; Angela M Christiano ^[2]
  1. [1] Universidad Autónoma de Nuevo León

     Universidad Autónoma de Nuevo León

     México

     
  2. [2] Columbia University

     Columbia University

     Estados Unidos

     
  3. [3] Centro Médico Noroeste IMSS Hospital Regional de Especialidades No. 25 Departamento de Dermatología

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• Localización: Revista Médica de Chile, ISSN-e 0034-9887, Vol. 139, Nº. 12, 2011, págs. 1601-1604
• Idioma: español
• Títulos paralelos:
  • Mutation in the ED1, Ala349Thr in a patient with X-linked hypohidrotic ectodermal dysplasia
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• Resumen

  • Hypohidrotic ectodermal dysplasia (HED) is a very rare disease characterized by the absence of eccrine glands, dry skin, scanty hair, and dental abnormalities. It is caused by mutations within the ED1 gene, which encodes a protein, ectodysplasin-A (EDA). Clinical characteristic are frontal bossing, saddle nose, pointed chin, a prominent supraorbital ridge with periorbital hyperpigmenta-tion, and anodontia. Those affected show great intolerance to heat. We report the first Mexican 2-year-old boy with an Ala349Thr missense mutation from Tamaulipas, México.