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Multiple epiphyseal dysplasia, ribbing type: A novel point mutation in the COMP gene in a South African family

✍ Scribed by Ballo, Robea; Briggs, Michael D.; Cohn, Daniel H.; Knowlton, Robert G.; Beighton, Peter H.; Ramesar, Rajkumar S.

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 214 KB
Volume: 68
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970211)68:4<396::aid-ajmg4>3.0.co;2-k

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✦ Synopsis

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 calmodulinlike 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.

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