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

Juha Kere, Anand K. Srivastava, Outi Montonen, Jonathan Zonana, Nick Thomas, Betsy Ferguson, Felix Munoz, Delyth Morgan, Angus Clarke, Primo Baybayan, Ellson Y. Chen, Sini Ezer, Ulpu Saarialho-Kere, Albert De La Chapelle, David Schlessinger

Research output: Contribution to journalArticlepeer-review

552 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)409-416
Number of pages8
JournalNature genetics
Volume13
Issue number4
DOIs
StatePublished - Aug 1996

ASJC Scopus subject areas

  • Genetics

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