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

Int J Dermatol. 2015 Jul;54(7):790-4. doi: 10.1111/ijd.12775. Epub 2015 Jan 27.


Background: Hypohidrotic 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.

Methods: We have screened 20 members of a family from Yucatán, México, 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.

Results: We 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.

Conclusions: We found a novel missense mutation in exon 1 of the EDA1 gene in a putative Mayan family from México with XL-HED. We identified in this population some novel clinical signs of HED.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Ectodermal Dysplasia 1, Anhidrotic / genetics*
  • Ectodysplasins / genetics*
  • Exons
  • Female
  • Heterozygote
  • Humans
  • Keratoderma, Palmoplantar / genetics
  • Male
  • Mutation, Missense*
  • Pedigree
  • Toes / abnormalities


  • EDA protein, human
  • Ectodysplasins