The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen.
The Stickler syndrome is an autosomal dominant hereditary disorder of connective tissue with pleiotropic features including premature osteoarthropathy, mild spondyloepiphyseal dysplasia, vitreoretinal degeneration, and the Pierre-Robin sequence. Genetic linkage studies in two families with the Stickler syndrome have been performed using restriction fragment length polymorphisms associated with the structural gene for type II collagen, COL2A1. No recombinants between the Stickler phenotype and COL2A1 were observed. The total LOD score for linkage of the Stickler syndrome and COL2A1 at a recombination fraction (theta) of zero is 3.59. These findings suggest that, at least in some families, the mutation causing Stickler syndrome affects the structural locus for type II collagen.
D003094:Collagen / Q000235:genetics*; D003240:Connective Tissue Diseases / Q000235:genetics*; D005796:Genes; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D010375:Pedigree; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D013577:Syndrome
D003094:Collagen