An Ectodysplasin A receptor (EDAR) founder mutation results in a high frequency of the autosomal recessive form of Hypohidrotic Ectodermal Dysplasia in India

Abstract:

Background:  Hypohidrotic/anhydrotic ectodermal dysplasia (HED) is a rare mendelian disorder affecting ectodermal tissues. The disease is primarily caused by inactivation of any one of three genes viz. Ectodysplasin A1 (EDA-A1) which encodes a ligand belonging to the Tumor Necrosis Factor (TNF) super family; Ectodysplasin A receptor (EDAR) encoding the EDA-A1 receptor and Ectodysplasin A receptor associated death domain (EDARADD) encoding an adaptor protein. X-linked recessive (EDA-A1), the predominant form of HED, as well as autosomal recessive and dominant (EDAR and EDARADD) inheritance patterns have been identified in affected families.


Objectives:  To ...

An Ectodysplasin A receptor (EDAR) founder mutation results in a high frequency of the autosomal recessive form of Hypohidrotic Ectodermal Dysplasia in India is a post from: Skincare

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