Novel EDA mutations cause X-linked hypohidrotic ectodermal dysplasia: the first study from Venezuela

Hypohidrotic/anhidrotic ectodermal dysplasia (HED) is a rare genetic disorder affecting ectodermal tissues mainly including hair, teeth, sweat glands, skin and nails. It exhibits X-linked (XLHED) as well as autosomal dominant or recessive modes of inheritance. In the first study conducted from Venez...

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Bibliographic Details
Published in:Clinical and experimental dermatology 2023-11, Vol.48 (12), p.1409-1413
Main Authors: Cammarata-Scalisi, Francisco, Callea, Michele, Chaudhary, Ajay Kumar, Cárdenas Tadich, Antonio, Castillo, Maykol Araya, Morabito, Antonino, Bellacchio, Emanuele, Pisaneschi, Elisa, Novelli, Antonio, Willoughby, Colin E, Bashyam, Murali Dharan
Format: Article
Language:English
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Summary:Hypohidrotic/anhidrotic ectodermal dysplasia (HED) is a rare genetic disorder affecting ectodermal tissues mainly including hair, teeth, sweat glands, skin and nails. It exhibits X-linked (XLHED) as well as autosomal dominant or recessive modes of inheritance. In the first study conducted from Venezuela, we analyzed two XLHED cases exhibiting classical clinical symptoms and identified a novel hemizygous EDA deletion (c.111delG) in one and a novel missense likely pathogenic variant (p.Gly192Glu) in the other. The current study adds to the growing repertoire of disease-causing EDA mutations with important implications for genetic screening in the affected families.
ISSN:0307-6938
1365-2230
DOI:10.1093/ced/llad218