A gene for hereditary multiple exostoses maps to chromosome 19p.
Hereditary multiple exostoses (EXT) is an autosomal dominant bony disorder characterized by the formation of cartilage-capped juxta-epiphyseal prominences on the long bones. Recently, a disease gene (EXT 1) has been mapped to chromosome 8q23-q24 by linkage analysis in informative families. Here, we report on the genetic mapping of a second locus (EXT 2) to the short arm of chromosome 19 by linkage to a microsatellite DNA marker at the D19S221 locus, which gives additional support to the view that EXT is a genetically heterogeneous condition.
Le Merrer
M
M
Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-393, Hôpital des Enfants-Malades, Paris, France.
Legeai-Mallet
L
L
Jeannin
P M
PM
Horsthemke
B
B
Schinzel
A
A
Plauchu
H
H
Toutain
A
A
Achard
F
F
Munnich
A
A
Maroteaux
P
P
D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D002898:Chromosomes, Human, Pair 8; D005097:Exostoses, Multiple Hereditary / Q000145:classification / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree