Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family.
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Ballo R, Briggs MD, Cohn DH, Knowlton RG, Beighton PH, Ramesar RS
Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family.
Am J Med Genet. 1997 Feb 11;68(4):396-400.
- PubMed ID
- 9021009 [ View in PubMed]
- 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.