A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix

• Published in: Human genetics Vol. 93; no. 3; p. 236
• Main Authors: Rimoin, D L, Rasmussen, I M, Briggs, M D, Roughley, P J, Gruber, H E, Warman, M L, Olsen, B R, Hsia, Y E, Yuen, J, Reinker, K
• Format: Journal Article
• Language: English
• Published: Germany 01.03.1994
• Subjects: Abnormalities, Multiple - genetics; Achondroplasia - diagnostic imaging; Achondroplasia - genetics; Adolescent; Adult; Cartilage - metabolism; Cartilage - ultrastructure; Cell Line; Child; Extracellular Matrix Proteins - genetics; Female; Genetic Linkage; Humans; Inclusion Bodies - ultrastructure; Infant; Male; Osteochondrodysplasias - diagnostic imaging; Osteochondrodysplasias - genetics; Pedigree; Polymerase Chain Reaction; Polymorphism, Genetic; Polymorphism, Restriction Fragment Length; Radiography
• ISSN: 0340-6717
• DOI: 10.1007/BF00212015

We have identified a large family with a dominantly inherited chondrodysplasia characterized by a waddling gait, short limbs, and early onset osteoarthritis. The radiographic presentation resembles pseudoachondroplasia in childhood and multiple epiphyseal dysplasia in adults. Electron microscopic examination of cartilage reveals accumulation of material within the rough endoplasmic reticulum similar to that seen in pseudoachondroplasia and the Fairbank type of multiple epiphyseal dysplasia. By linkage analysis, we have excluded the genes for aggrecan, decorin, hexabrachion (tenascin), type II procollagen, the alpha 1 chain of type XI procollagen, the alpha 1 chain of type IX procollagen, and link protein, candidate genes that encode structural components of the cartilage extracellular matrix, as the disease locus for this disorder.