Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

Autor: M.D. Briggs, S.M.G. Hoffman, L.M. King, A.S. Olsen, H. Mohrenweiser, J.G. Leroy, G.R. Mortier, D.L. Rimoin, R.S. Lachman, E.S. Gaines, J.A. Cekleniak, R.G. Knowlton, D.H. Cohn
Rok vydání: 1995
Předmět:
Male
musculoskeletal diseases
Genetic Linkage
Molecular Sequence Data
Cartilage Oligomeric Matrix Protein
DNA
Satellite

Biology
Osteochondrodysplasias
Polymerase Chain Reaction
Achondroplasia
Multiple epiphyseal dysplasia
Pseudoachondroplasia
Calmodulin
Gene mapping
Genetic linkage
Chromosome 19
Genetics
medicine
Humans
Matrilin Proteins
Amino Acid Sequence
Alleles
Polymorphism
Single-Stranded Conformational

Genes
Dominant

Glycoproteins
Repetitive Sequences
Nucleic Acid

Cartilage oligomeric matrix protein
Extracellular Matrix Proteins
Base Sequence
Epidermal Growth Factor
Cartilage
Chromosome Mapping
musculoskeletal system
medicine.disease
Osteochondrodysplasia
Molecular biology
Pedigree
Radiography
medicine.anatomical_structure
Mutation
biology.protein
Calcium
Female
Chromosomes
Human
Pair 19
Zdroj: Nature Genetics. 10:330-336
ISSN: 1546-1718
1061-4036
DOI: 10.1038/ng0795-330
Popis: Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are dominantly inherited chondrodysplasias characterized by short stature and early-onset osteoarthrosis. The disease genes in families with PSACH and MED have been localized to an 800 kilobase interval on the short arm of chromosome 19. Recently the gene for cartilage oligomeric matrix protein (COMP) was localized to chromosome 19p13.1. In three patients with these diseases, we identified COMP mutations in a region of the gene that encodes a Ca++ binding motif. Our data demonstrate that PSACH and some forms of MED are allelic and suggest an essential role for Ca++ binding in COMP structure and function.
Databáze: OpenAIRE