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
| Autor: | David L. Rimoin, I. Merete Rasmussen, Michael D. Briggs, Peter J. Roughley, Helen E. Gruber, Matthew L. Warman, Bjorn R. Olsen, Y. Edward Hsia, Juliet Yuen, Kent Reinker, Ann P. Garber, Judy Grover, Ralph S. Lachman, Daniel H. Cohn |
|---|---|
| Rok vydání: | 1994 |
| Předmět: |
Adult
Male Candidate gene Adolescent Genetic Linkage Cartilage metabolism Biology Osteochondrodysplasias Polymerase Chain Reaction Achondroplasia Cell Line Multiple epiphyseal dysplasia Pseudoachondroplasia Genetics medicine Humans Abnormalities Multiple Child Genetics (clinical) Aggrecan Inclusion Bodies Extracellular Matrix Proteins Polymorphism Genetic Cartilage Infant medicine.disease Osteochondrodysplasia Pedigree Radiography Procollagen peptidase medicine.anatomical_structure Female Polymorphism Restriction Fragment Length |
| Zdroj: | Human Genetics. 93:236-242 |
| ISSN: | 1432-1203 0340-6717 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink