title: [Mutation in the ED1, Ala349Thr in a patient with X-linked hypohidrotic ectodermal dysplasia].
abstract: 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.
authors.affiliation: Servicio de Dermatología, Hospital Universitario José E. González, Universidad Autónoma de Nuevo León, Monterrey, Nuevo León, México. drjuliosalas@gmail.com
authors.forename: Julio C
authors.initials: JC
authors.lastname: Salas-Alanis
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Cepeda-Valdés
authors.forename: Adriana
authors.initials: A
authors.lastname: González-Santos
authors.forename: Mario
authors.initials: M
authors.lastname: Amaya-Guerra
authors.forename: Mazen
authors.initials: M
authors.lastname: Kurban
authors.forename: Angela M
authors.initials: AM
authors.lastname: Christiano
mesh_terms: D002675:Child, Preschool; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000235:genetics* / Q000473:pathology; D053331:Ectodysplasins / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*
chemical_list: D053331:Ectodysplasins