Mutation in the ED1, Ala349Thr in a patient with X-linked hypohidrotic ectodermal dysplasia

作者：Salas Alanis Julio C^*; Cepeda Valdes Rodrigo; Gonzalez Santos Adriana; Amaya Guerra Mario; Kurban Mazen; Christiano Angela M

来源：Revista Medica de Chile, 2011, 139(12): 1601-1604.

• Ectodermal dysplasia, hypohidrotic
• Ectodysplasias
• Mutation, missense

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 first Mexican 2-year-old boy with an Ala349Thr missense mutation from Tamaulipas, Mexico. (Rev Med Chile 2011; 139: 1601-1604).

• 出版日期2011-12