Document Detail

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).
MedLine Citation:
PMID:  9805126     Owner:  NLM     Status:  MEDLINE    
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.
T Pihlajamaa; D J Prockop; J Faber; A Winterpacht; B Zabel; A Giedion; P Wiesbauer; J Spranger; L Ala-Kokko
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of medical genetics     Volume:  80     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1998 Nov 
Date Detail:
Created Date:  1999-01-07     Completed Date:  1999-01-07     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  115-20     Citation Subset:  IM    
Collagen Research Unit, University of Oulu, Finland.
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MeSH Terms
Abnormalities, Multiple / genetics*
Amino Acid Sequence
Base Sequence
Collagen / genetics*
DNA Primers
Glycine / genetics*
Grant Support
Reg. No./Substance:
0/DNA Primers; 56-40-6/Glycine; 9007-34-5/Collagen

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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