Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).
Publication/Presentation Date
11-2-1998
Abstract
The original patient with the Weissenbacher-Zweymüller 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-Zweymüller syndrome (heterozygous OSMED), nonocular Stickler syndrome, and homozygous OSMED are all caused by mutations in the COL11A2 gene.
Volume
80
Issue
2
First Page
115
Last Page
120
ISSN
0148-7299
Published In/Presented At
Pihlajamaa, T., Prockop, D. J., Faber, J., Winterpacht, A., Zabel, B., Giedion, A., Wiesbauer, P., Spranger, J., & Ala-Kokko, L. (1998). Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome). American journal of medical genetics, 80(2), 115–120. https://doi.org/10.1002/(sici)1096-8628(19981102)80:2<115::aid-ajmg5>3.0.co;2-o
Disciplines
Medicine and Health Sciences
PubMedID
9805126
Department(s)
Department of Pathology and Laboratory Medicine
Document Type
Article