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

Julio C. Salas-Alanis, Rodrigo Cepeda-Valdés, Adriana González-Santos, Mario Amaya-Guerra, Mazen Kurban, Angela M. Christiano

Research output: Contribution to journalArticle

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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 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, México.
Original languageEnglish
Pages (from-to)1601-1604
Number of pages4
JournalRevista Medica de Chile
DOIs
Publication statusPublished - 1 Dec 2011
Externally publishedYes

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Ectodysplasins
Tooth Abnormalities
Anhidrotic Ectodermal Dysplasia 1
Anodontia
Eccrine Glands
Chin
Hyperpigmentation
Missense Mutation
Rare Diseases
Nose
Hair
Hot Temperature
Skin
Mutation
Genes
Proteins

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Salas-Alanis, J. C., Cepeda-Valdés, R., González-Santos, A., Amaya-Guerra, M., Kurban, M., & Christiano, A. M. (2011). Mutation in the ED1, Ala349Thr in a patient with X-linked hypohidrotic ectodermal dysplasia. Revista Medica de Chile, 1601-1604. https://doi.org/10.4067/S0034-98872011001200011
Salas-Alanis, Julio C. ; Cepeda-Valdés, Rodrigo ; González-Santos, Adriana ; Amaya-Guerra, Mario ; Kurban, Mazen ; Christiano, Angela M. / Mutation in the ED1, Ala349Thr in a patient with X-linked hypohidrotic ectodermal dysplasia. In: Revista Medica de Chile. 2011 ; pp. 1601-1604.
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Salas-Alanis, JC, Cepeda-Valdés, R, González-Santos, A, Amaya-Guerra, M, Kurban, M & Christiano, AM 2011, 'Mutation in the ED1, Ala349Thr in a patient with X-linked hypohidrotic ectodermal dysplasia', Revista Medica de Chile, pp. 1601-1604. https://doi.org/10.4067/S0034-98872011001200011

Mutation in the ED1, Ala349Thr in a patient with X-linked hypohidrotic ectodermal dysplasia. / Salas-Alanis, Julio C.; Cepeda-Valdés, Rodrigo; González-Santos, Adriana; Amaya-Guerra, Mario; Kurban, Mazen; Christiano, Angela M.

In: Revista Medica de Chile, 01.12.2011, p. 1601-1604.

Research output: Contribution to journalArticle

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AU - Salas-Alanis, Julio C.

AU - Cepeda-Valdés, Rodrigo

AU - González-Santos, Adriana

AU - Amaya-Guerra, Mario

AU - Kurban, Mazen

AU - Christiano, Angela M.

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AB - 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, México.

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Salas-Alanis JC, Cepeda-Valdés R, González-Santos A, Amaya-Guerra M, Kurban M, Christiano AM. Mutation in the ED1, Ala349Thr in a patient with X-linked hypohidrotic ectodermal dysplasia. Revista Medica de Chile. 2011 Dec 1;1601-1604. https://doi.org/10.4067/S0034-98872011001200011