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© 1994 Oxford University Press

OTHER

A gene for hereditary multiple exostoses maps to chromosome 19p

Marline Le Merrer*, Laurence Legeai-Mallet, Patricia Margaritte Jeannin1, Bernhard Horsthemke2, Albert Schlnzel3, Henri Plauchu4, Annick Toutaln5, Frédéric Achard, Arnold Munnich and Pierre Maroteaux6

Unité de Recherches sur les Handicaps Génétiques de I'Enfant INSERM U-393, Hôpital des Enfants-Malades 149 rue de Sevres, 75743 Paris Cedex 15 1Unité INSERM U-155, Chateau de Longchamp, Carrefour du Bois de Boulogne 75016 Pans, France 2Institute für Humangenetik D-45122 Essen, Germany 3Institut für Medizinische Genetik 8001 Zurich, Switzerland 4Hôpital Edouard Herriot 69000 Lyon 5Hôpital Clocheville, 37000 Tours 6Unité URA CNRS 584, Hôpital des Enfants-Malades 75743 Paris Cedex 15, France

*To whom correspondence should be addressed

Received November 29, 1993; Accepted March 8, 1994

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 addltonal support to the view that EXT is a genetically heterogeneous condition.


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