Repository of Research and Investigative Information

Repository of Research and Investigative Information

Hormozgan University of Medical Sciences

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

(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.

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Abstract

Abstract Ectodermal dysplasias (EDs) are a large group of heritable complex conditions with more than ٢٠٠ members and common clinical characteristics of anomalies of the hair, teeth, nails, and sweat glands with or without involvement of other organs (١) . 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) (٢) . Different modes of inheritance have been described for HED. X-linked HED (OMIM: ٣٠٥١٠٠) is caused by mutations in ectodysplasin A gene (EDA١), whereas mutations in the EDA receptor (EDAR) and EDAR-associated death domain (EDARADD) genes result in autosomal dominant (OMIM:١٢٩٤٩٠) and autosomal recessive (OMIM: ٢٢٤٩٠٠) forms (٣) .

Item Type: Article
Keywords: Novel Missense Mutation EDAR Autosomal
Subjects: QU Biochemistry. Cell Biology and Genetics > QU 300-560 Cell Biology and Genetics
Divisions: Research Vice-Chancellor Department > Fertility and Infertility Research Center
Depositing User: مركز تحقيقات بهداشت باروري و ناباروري
URI: http://eprints.hums.ac.ir/id/eprint/4565

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