HETEROZYGOUS GLYCINE SUBSTITUTION IN THE COL11A2 GENE IN THE ORIGINALPATIENT WITH THE WEISSENBACHER-ZWEYMULLER-SYNDROME DEMONSTRATES ITS IDENTITY WITH HETEROZYGOUS OSMED (NONOCULAR STICKLER-SYNDROME)

The original patient with the Weissenbacher-Zweymuller syndrome was an alyzed for mutations in two candidate genes expressed in cartilage (CO L2A1 and COL11A2). No mutations were found in the COL2A1 gene but the COL11A2 gene contained a single-base mutation that converted a codon f or an obligate glycine to a codon for glutamate at position alpha 2-95 5 (G955E). The results here and those published previously indicate th at the Weissenbacher-Zweymuller syndrome (heterozygous OSMED), nonocul ar Stickler syndrome, and homozygous OSMED are all caused by mutations in the COL11A2 gene, (C) 1998 Wiley-Liss, Inc.