Novel missense mutation in the EDA1 gene identified in a family with hypohidrotic ectodermal dysplasia

作者：Pozo Molina Glustein; Reyes Reali Julia; Mendoza Ramos Maria Isabel; Villalobos Molina Rafael; Garrido Guerrero Efrain; Mendez Cruz Adolfo Rene^*

来源：International Journal of Dermatology, 2015, 54(7): 790-794.

DOI：10.1111/ijd.12775

BackgroundHypohidrotic ectodermal dysplasia (HED) is a human genetic disorder that affects structures of ectodermal origin such as hair, teeth, and sweat glands. Although there are autosomal recessive and dominant forms, X-linked (XL) is the most frequent form of the disease. This XL-HED phenotype is associated with mutations in the gene encoding the transmembrane protein ectodysplasin-1 (EDA1). We report the clinical and molecular analysis of a novel mutation in exon 1 affecting the transmembrane domain of the protein.
MethodsWe have screened 20 members of a family from Yucatan, Mexico, nine men and 11 women, searching clinical and histopathological signs of HED. We searched mutations in EDA1 gene from patients with XL-HED, carriers, and controls.
ResultsWe identified seven men with clinical characteristics of HED showing short toes and plantar hyperkeratosis not reported previously in patients with HED. A mutational study of the EDA1 gene showed that all seven patients with HED carry a novel missense mutation of the nucleotide 409 (c.409T>C) in exon 1, which changes p.Leu56-Pro in the protein amino acid sequence; five women are heterozygous compatible with carrier status.
ConclusionsWe found a novel missense mutation in exon 1 of the EDA1 gene in a putative Mayan family from Mexico with XL-HED. We identified in this population some novel clinical signs of HED.

• 出版日期2015-7