In:
International Journal of Dermatology, Wiley, Vol. 54, No. 7 ( 2015-07), p. 790-794
Abstract:
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 ( EDA 1). 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 EDA 1 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 EDA 1 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 EDA 1 gene in a putative Mayan family from México with XL ‐ HED . We identified in this population some novel clinical signs of HED .
Type of Medium:
Online Resource
ISSN:
0011-9059
,
1365-4632
DOI:
10.1111/ijd.2015.54.issue-7
Language:
English
Publisher:
Wiley
Publication Date:
2015
detail.hit.zdb_id:
2020365-2
