X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.
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.
Kere
J
J
Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.
Srivastava
A K
AK
Montonen
O
O
Zonana
J
J
Thomas
N
N
Ferguson
B
B
Munoz
F
F
Morgan
D
D
Clarke
A
A
Baybayan
P
P
Chen
E Y
EY
Ezer
S
S
Saarialho-Kere
U
U
de la Chapelle
A
A
Schlessinger
D
D
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*
D017931:DNA Primers; D018076:DNA, Complementary; C506018:EDA protein, human; D053331:Ectodysplasins; D008565:Membrane Proteins; D012333:RNA, Messenger