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

Salas Alanís, Julio César y Cepeda Valdés, Rodrigo y González Santos, Adriana y Amaya Guerra, Mario y Kurban, Mazen y Christiano, Angela M (2011) Mutación en el gen EDA1, Ala349Thr en paciente con displasia ectodérmica hipohidrótica ligada a X. Revista médica de Chile, 139 (12). pp. 1601-1604. ISSN 0034-9887

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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 hyperpigmentation, and anodontia. Those affected show great intolerance to heat. We report the fi rst Mexican 2-year-old boy with an Ala349Thr missense mutation from Tamaulipas, México. (Rev Med Chile 2011; 139: 1601-1604).

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