X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

  • Nat Genet. 1996 Aug;13(4):409-16. doi: 10.1038/ng0895-409.
J Kere  1 ,  A K Srivastava ,  O Montonen ,  J Zonana ,  N Thomas ,  B Ferguson ,  F Munoz ,  D Morgan ,  A Clarke ,  P Baybayan ,  E Y Chen ,  S Ezer ,  U Saarialho-Kere ,  A de la Chapelle ,  D Schlessinger
Affiliations
  • 1. Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.
PMID: 8696334 DOI: 10.1038/ng0895-409
Abstract

Ectodermal dysplasias comprise over 150 syndromes of unknown pathogenesis. X-linked anhidrotic ectodermal dysplasia (EDA) is characterized by abnormal hair, teeth and sweat glands. We now describe the positional cloning of the gene mutated in EDA. Two exons, separated by a 200-kilobase intron, encode a predicted 135-residue transmembrane protein. The gene is disrupted in six patients with X;autosome translocations or submicroscopic deletions; nine patients had point mutations. The gene is expressed in keratinocytes, hair follicles, and sweat glands, and in other adult and fetal tissues. The predicted EDA protein may belong to a novel class with a role in epithelial-mesenchymal signalling.