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Am J Med Genet. 1997 Feb 11;68(4):396-400.

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

Author information

1
Department of Human Genetics, University of Cape Town Medical School, South Africa.

Erratum in

  • Am J Med Genet 1997 Sep 5;71(4):494.

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.

PMID:
9021009
[Indexed for MEDLINE]

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