A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13.
Autosomal dominant hypohidrotic ectodermal dysplasia (ADHED) is a disorder characterized by fine, slow-growing scalp and body hair, sparse eyebrows and eyelashes, decreased sweating, hypodontia, and nail anomalies. By genetic linkage analysis of a large ADHED kindred, we have mapped a gene for ADHED (EDA3) to the proximal long arm of chromosome 2 (q11-q13). Obligate recombinations localize EDA3 to an approximately 9-cM interval between D2S1321 and D2S308, with no apparent recombinations with markers D2S1343, D2S436, D2S293, D2S1894, D2S1784, D2S1890, D2S274, and CHLC.GAAT11C03.
Ho
L
L
Department of Medical Genetics, University of Wisconsin, Madison, WI 53706, USA.
Williams
M S
MS
Spritz
R A
RA
D002889:Chromosomes, Human, Pair 2; D004476:Ectodermal Dysplasia / Q000150:complications / Q000235:genetics*; D053331:Ectodysplasins; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D007007:Hypohidrosis / Q000150:complications / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D010375:Pedigree
C506018:EDA protein, human; D053331:Ectodysplasins; D008565:Membrane Proteins