Kere,J., Srivastava,A.K., Montonen,O., Zonana,J., Thomas,N., Ferguson,B., Munoz,F., Morgan,D., Clarke,A., Baybayan,P., Chen,E.Y., Ezer,S., Saarialhokere,U., Delachapelle,A., and, Schlessinger,D.
X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.
Nature Genetics 13(4):409-416 (1996).
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. [References: 46].
Last edited 10.12.2004 by P.N.