Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).
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abstract
The original patient with the Weissenbacher-Zweymller syndrome was analyzed for mutations in two candidate genes expressed in cartilage (COL2A1 and COL11A2). No mutations were found in the COL2A1 gene but the COL11A2 gene contained a single-base mutation that converted a codon for an obligate glycine to a codon for glutamate at position alpha 2-955 (G955E). The results here and those published previously indicate that the Weissenbacher-Zweymller syndrome (heterozygous OSMED), nonocular Stickler syndrome, and homozygous OSMED are all caused by mutations in the COL11A2 gene.