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Multiple epiphyseal dysplasia (MED) is a dominantly inherited chondrodysplasia characterized by mild short stature and early-onset osteoarthrosis. Some forms of MED clinically resemble another chondrodysplasia phenotype, the mild form of pseudoachondroplasia (PSACH). On the basis of their clinical similarities as well as similar ultrastructural and biochemical features in cartilage from some patients, it has been proposed that MED and PSACH belong to a single bone-dysplasia family. Recently, both mild and severe PSACH as well as a form of MED have been linked to the same interval on chromosome 19, suggesting that they may be allelic disorders. Linkage studies with the chromosome 19 markers were carried out in a large family with MED and excluded the previously identified interval. Using this family, we have identified an MED locus on the short arm of chromosome 1, in a region containing the gene (COL9A2) that encodes the alpha 2 chain of type IX collagen, a structural component of the cartilage extracellular matrix.

Type

Journal article

Journal

American Journal of Human Genetics

Publication Date

10/1994

Volume

55

Pages

678 - 684

Addresses

Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center, Los Angeles, CA 90048.

Keywords

Chromosomes, Human, Pair 1, Humans, Osteochondrodysplasias, Collagen, Genetic Markers, Chromosome Mapping, Pedigree, Lod Score, Child, Child, Preschool, Female, Male, Genetic Linkage