title: X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.
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.
authors.affiliation: Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.
authors.forename: J
authors.initials: J
authors.lastname: Kere
authors.forename: A K
authors.initials: AK
authors.lastname: Srivastava
authors.forename: O
authors.initials: O
authors.lastname: Montonen
authors.forename: J
authors.initials: J
authors.lastname: Zonana
authors.forename: N
authors.initials: N
authors.lastname: Thomas
authors.forename: B
authors.initials: B
authors.lastname: Ferguson
authors.forename: F
authors.initials: F
authors.lastname: Munoz
authors.forename: D
authors.initials: D
authors.lastname: Morgan
authors.forename: A
authors.initials: A
authors.lastname: Clarke
authors.forename: P
authors.initials: P
authors.lastname: Baybayan
authors.forename: E Y
authors.initials: EY
authors.lastname: Chen
authors.forename: S
authors.initials: S
authors.lastname: Ezer
authors.forename: U
authors.initials: U
authors.lastname: Saarialho-Kere
authors.forename: A
authors.initials: A
authors.lastname: de la Chapelle
authors.forename: D
authors.initials: D
authors.lastname: Schlessinger
mesh_terms: D000328:Adult; D000483:Alleles; D000505:Alopecia / Q000235:genetics; D000595:Amino Acid Sequence; D001483:Base Sequence; D018244:Chromosomes, Artificial, Yeast; D018899:CpG Islands; D017931:DNA Primers / Q000737:chemistry; D018076:DNA, Complementary / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000235:genetics*; D053331:Ectodysplasins; D015870:Gene Expression; D008040:Genetic Linkage; D006197:Hair / Q000002:abnormalities / Q000502:physiology; D006801:Humans; D007007:Hypohidrosis / Q000235:genetics*; D017403:In Situ Hybridization; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D011401:Promoter Regions, Genetic; D012333:RNA, Messenger / Q000235:genetics; D012879:Skin Physiological Phenomena; D014071:Tooth Abnormalities / Q000235:genetics*; D014178:Translocation, Genetic; D014960:X Chromosome / Q000235:genetics*
chemical_list: D017931:DNA Primers; D018076:DNA, Complementary; C506018:EDA protein, human; D053331:Ectodysplasins; D008565:Membrane Proteins; D012333:RNA, Messenger