title: Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family.
abstract: Multiple epiphyseal dysplasia is broadly categorised into the more severe Fairbank and the milder Ribbing types. In this paper we document mild MED in a South African kindred, and demonstrate that heterozygosity for a mutation in the cartilage oligomeric matrix protein (COMP) gene causes the condition. The mutation, C1594G, implies a N523K substitution, altering a residue at the carboxyl-terminal end of the calmodulin-like region of COMP. The identification of this mutation demonstrates that the spectrum of manifestations from mild MED through pseudoachondroplasia can all be produced by structural mutations in COMP.
authors.affiliation: Department of Human Genetics, University of Cape Town Medical School, South Africa.
authors.forename: R
authors.initials: R
authors.lastname: Ballo
authors.forename: M D
authors.initials: MD
authors.lastname: Briggs
authors.forename: D H
authors.initials: DH
authors.lastname: Cohn
authors.forename: R G
authors.initials: RG
authors.lastname: Knowlton
authors.forename: P H
authors.initials: PH
authors.lastname: Beighton
authors.forename: R S
authors.initials: RS
authors.lastname: Ramesar
mesh_terms: D000328:Adult; D064236:Cartilage Oligomeric Matrix Protein; D016326:Extracellular Matrix Proteins; D005260:Female; D008040:Genetic Linkage; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008297:Male; D064235:Matrilin Proteins; D008875:Middle Aged; D009154:Mutation; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D011859:Radiography; D017422:Sequence Analysis, DNA; D013019:South Africa
chemical_list: D064236:Cartilage Oligomeric Matrix Protein; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D064235:Matrilin Proteins; C577553:TSP5 protein, human