Identification of a Novel Missense Mutation in EDAR Causing Autosomal Recessive 
Hypohidrotic Ectodermal Dysplasia with Bilateral Amastia and Palmoplantar 
Hyperkeratosis

Haghighi, A.; Nikuei, P.; Haghighi-Kakhki, H.; N, H. Saleh-Gohari; Baghestani, S.; Krawitz, P. M.; Hecht, J.; Mundlos, S.

doi:10.1111/bjd.12151

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Identification of a Novel Missense Mutation in EDAR Causing Autosomal Recessive Hypohidrotic Ectodermal Dysplasia with Bilateral Amastia and Palmoplantar Hyperkeratosis

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Hecht, J.
Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;
Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité Universitätsmedizin Berlin;

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Mundlos, S.
Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;
Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité Universitätsmedizin Berlin;
Institut für Medizinische Genetik und Humangenetik, Charité Universitätsmedizin Berlin;

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Zitation

Haghighi, A., Nikuei, P., Haghighi-Kakhki, H., N, H.-S.-G., Baghestani, S., Krawitz, P. M., et al. (2012). Identification of a Novel Missense Mutation in EDAR Causing Autosomal Recessive Hypohidrotic Ectodermal Dysplasia with Bilateral Amastia and Palmoplantar Hyperkeratosis. British Journal of Dermatology, 2012, e-e. doi:10.1111/bjd.12151.

Zitierlink: https://hdl.handle.net/11858/00-001M-0000-000E-F268-2

Zusammenfassung

Ectodermal dysplasias (EDs) are a large group of heritable complex conditions with more than 200 members and common clinical characteristics of anomalies of the hair, teeth, nails, and sweat glands with or without involvement of other organs (1) . Anhidrotic or hypohidrotic ectodermal dysplasia (EDA/ HED) is the most common form of EDs which is characterized by the clinical triad of hypotrichosis (sparse hair), abnormal or missing teeth (anodontia or hypodontia), and deficient sweating (hypohidrosis or anhidrosis) (2) . Different modes of inheritance have been described for HED. X-linked HED (OMIM: 305100) is caused by mutations in ectodysplasin A gene (EDA1), whereas mutations in the EDA receptor (EDAR) and EDAR-associated death domain (EDARADD) genes result in autosomal dominant (OMIM:129490) and autosomal recessive (OMIM: 224900) forms (3) .