title: 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).
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.
authors.affiliation: Collagen Research Unit, University of Oulu, Finland.
authors.forename: T
authors.initials: T
authors.lastname: Pihlajamaa
authors.forename: D J
authors.initials: DJ
authors.lastname: Prockop
authors.forename: J
authors.initials: J
authors.lastname: Faber
authors.forename: A
authors.initials: A
authors.lastname: Winterpacht
authors.forename: B
authors.initials: B
authors.lastname: Zabel
authors.forename: A
authors.initials: A
authors.lastname: Giedion
authors.forename: P
authors.initials: P
authors.lastname: Wiesbauer
authors.forename: J
authors.initials: J
authors.lastname: Spranger
authors.forename: L
authors.initials: L
authors.lastname: Ala-Kokko
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D003094:Collagen / Q000235:genetics*; D017931:DNA Primers; D005998:Glycine / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D013577:Syndrome
chemical_list: D017931:DNA Primers; D003094:Collagen; D005998:Glycine