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). Academic Article uri icon

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.

published proceedings

  • Am J Med Genet

altmetric score

  • 3

author list (cited authors)

  • Pihlajamaa, T., Prockop, D. J., Faber, J., Winterpacht, A., Zabel, B., Giedion, A., ... Ala-Kokko, L.

citation count

  • 70

complete list of authors

  • Pihlajamaa, T||Prockop, DJ||Faber, J||Winterpacht, A||Zabel, B||Giedion, A||Wiesbauer, P||Spranger, J||Ala-Kokko, L

publication date

  • November 1998

publisher