Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia - multiple epiphyseal dysplasia disease spectrum

Article Abstract:

Mutations in the gene for cartilage oligomeric matrix protein (COMP) bring some forms of multiple epiphyseal dysplasia (MED) and bring pseudoachondroplasia (PSACH). Early-onset osteoarthrosis and mild-to-severe short-limb dwarfism occur with PSACH and MED. In 14 families with MED or PSACH phenotypes COMP mutations have been identified. In the region of the COMP gene that encodes the calmodulin-like repeat elements mutations thought likely to bring with them single amino acid deletions/substitution have been found in people with moderate to sever PSACH. In the same domain a missense mutation that brought MED Fairbank was found. It appears that there is phenotype overlap for MED and PSACH. The carboxyl-terminal domain is a factor in the structure and /or function of COMP.

Health aspects, Gene mutations, Gene mutation, Osteoarthritis, Cartilage, Dwarfism, Achondroplasia

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Localization of a multiple synostoses--syndrome disease gene to chromosome 17q21-22

Article Abstract:

Linkage analysis has been performed on a large Hawaiian family with multiple synostoses syndrome. The syndrome and proximal symphalangism may be allelic disorders. Proximal symphalangism has some of the same symptoms and has been linked to markers on chromosome 17q21-22. The hypothesis that multiple synostoses syndrome is linked to the same region was tested and found to be valid. Multiple synostoses syndrome is an autosomal dominant disorder in which there is deafness, premature onset of joint fusions, first affecting the interphalangeal joints, and characteristic facies.

United States, Joints, Abnormalities, Joints (Anatomy), Allelomorphism, Alleles, Deafness

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Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia

Article Abstract:

Novel pro-alpha2(IX) collagen gene mutations have been identified in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia (MED). MED is a genetically heterogeneous disorder remarkable for its variability, both clinical and radiographic. In both mutations exon 3 from COL9A2 mRNA is skipped. Position of the mutation in the splice-donor site determines the stability of the mRNA produced from the mutant allele of COL9A2.

United Kingdom, Germany, Belgium, Collagen, Bone tumors

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