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).
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.
Pihlajamaa
T
T
Collagen Research Unit, University of Oulu, Finland.
Prockop
D J
DJ
Faber
J
J
Winterpacht
A
A
Zabel
B
B
Giedion
A
A
Wiesbauer
P
P
Spranger
J
J
Ala-Kokko
L
L
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
D017931:DNA Primers; D003094:Collagen; D005998:Glycine