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Novel missense mutation in the EDA 1 gene identified in a family with hypohidrotic ectodermal dysplasia
Author(s) -
PozoMolina Glustein,
ReyesReali Julia,
MendozaRamos María Isabel,
VillalobosMolina Rafael,
GarridoGuerrero Efraín,
MéndezCruz Adolfo René
Publication year - 2015
Publication title -
international journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 93
eISSN - 1365-4632
pISSN - 0011-9059
DOI - 10.1111/ijd.12775
Subject(s) - hypohidrotic ectodermal dysplasia , missense mutation , exon , genetics , ectodermal dysplasia , mutation , gene , medicine , point mutation , biology
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 ( 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 .