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Lookup NU author(s): Professor John LoughlinORCiD
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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.
Author(s): Briggs MD, Choi H, Warman ML, Loughlin JA, Wordsworth P, Sykes BC, Irven CM, Smith M, Wynne-Davies R, Lipson MH, et al
Publication type: Article
Publication status: Published
Journal: American Journal of Human Genetics
Year: 1994
Volume: 55
Issue: 4
Pages: 678-84
Print publication date: 01/10/1994
ISSN (print): 0002-9297
Publisher: Elsevier
URL: https://doi.org/10.1007/BF00206966
DOI: 10.1007/BF00206966
Notes: AR36819/AR/United States NIAMS AR36820/AR/United States NIAMS HD22657/HD/United States NICHD Journal Article Research Support, U.S. Gov't, P.H.S. United states
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