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Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweym�ller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)

✍ Scribed by Pihlajamaa, Tero; Prockop, Darwin J.; Faber, J�rg; Winterpacht, Andreas; Zabel, Bernhard; Giedion, Andres; Wiesbauer, Peter; Spranger, J�rgen; Ala-Kokko, Leena

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
72 KB
Volume
80
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19981102)80:2<115::aid-ajmg5>3.0.co;2-o

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✦ Synopsis

The original patient with the Weissenbacher-Zweymu ¨ller 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 ␣2-955 (G955E). The results here and those published previously indicate that the Weissenbacher-Zweymu ¨ller syndrome (heterozygous OSMED), nonocular Stickler syndrome, and homozygous OSMED are all caused by mutations in the COL11A2 gene. Am.

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