MULTIPLE EPIPHYSEAL DYSPLASIA, RIBBING TYPE - A NOVEL POINT MUTATION IN THE COMP GENE IN A SOUTH-AFRICAN FAMILY

Multiple epiphyseal dysplasia is broadly categorised into the more sev ere Fairbank and the milder Ribbing types. In this paper we document m ild MED in a South African kindred, and demonstrate that heterozygosit y for a mutation in the cartilage oligomeric matrix protein (COMP) gen e causes the condition, The mutation, C1594G, implies a N523K substitu tion, altering a residue at the carboxyl-terminal end of the calmoduli n-like region of COMP. The identification of this mutation demonstrate s that the spectrum of manifestations from mild through pseudoachondro plasia can all be produced by structural mutations in COMP. (C) 1997 W iley-Liss, Inc.