Multiple epiphyseal dysplasia, ribbing type: a nov...[Am J Med Genet. 1997]

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

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

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

Ballo R, Briggs MD, Cohn DH, Knowlton RG, Beighton PH, Ramesar RS.

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

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 [PubMed - indexed for MEDLINE]

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum. [Am J Hum Genet. 1998]
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia. [Hum Genet. 2003]
Autosomal dominant precocious osteoarthropathy due to a mutation of the cartilage oligomeric matrix protein (COMP) gene: further expansion of the phenotypic variations of COMP defects. [Skeletal Radiol. 2002]
ReviewMED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia. [Pediatr Radiol. 2005]
ReviewPseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments. [Am J Med Genet. 2001]

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

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

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