Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene

• Published in: American journal of human genetics 1994-10, Vol.55 (4), p.678-684
• Main Authors: Briggs, M D, Choi, H, Warman, M L, Loughlin, J A, Wordsworth, P, Sykes, B C, Irven, C M, Smith, M, Wynne-Davies, R, Lipson, M H
• Format: Article
• Language: English
• Subjects: Child; Child, Preschool; Chromosome Mapping; Chromosomes, Human, Pair 1; Collagen - genetics; Female; Genetic Linkage; Genetic Markers; Humans; Lod Score; Male; Original; Osteochondrodysplasias - genetics; Pedigree
• ISSN: 0002-9297; 1537-6605

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.