Am J Med Genet. 1998 Nov 2;80(2):115-20.

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).

Pihlajamaa T, Prockop DJ, Faber J, Winterpacht A, Zabel B, Giedion A, Wiesbauer P, Spranger J, Ala-Kokko L.

Collagen Research Unit, University of Oulu, Finland.

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.

PMID: 9805126 [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances, Grant Support

Publication Types:

MeSH Terms:

Substances:

Grant Support:

AR39740/AR/NIAMS NIH HHS/United States

LinkOut - more resources

Full Text Sources:

Medical:

Molecular Biology Databases:

GLYCINE - HSDB

Libraries:

LinkOut Holdings

Supplemental Content

COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).
Am J Med Genet A. 2005 Jan 1; 132A(1):33-5.

[Am J Med Genet A. 2005]
Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.
Am J Med Genet. 1997 Jun 13; 70(3):315-23.

[Am J Med Genet. 1997]
Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy)
Am J Hum Genet. 1993 Jul; 53(1):55-61.

[Am J Hum Genet. 1993]
ReviewA stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome.
Am J Med Genet A. 2004 Oct 1; 130A(2):160-4.

[Am J Med Genet A. 2004]
ReviewHereditary vitreopathy.
Eye (Lond). 1996; 10 ( Pt 6):653-63.

[Eye (Lond). 1996]
» See reviews... | » See all...

Cited by 7 PubMed Central articles

A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.
Van Camp G, Snoeckx RL, Hilgert N, van den Ende J, Fukuoka H, Wagatsuma M, Suzuki H, Smets RM, Vanhoenacker F, Declau F, et al. Am J Hum Genet. 2006 Sep; 79(3):449-57. Epub 2006 Jun 26.

[Am J Hum Genet. 2006]
A novel retinoic acid-response element requires an enhancer element mediator for transcriptional activation.
Harris LR, Kamarainen OP, Sevakivi M, Miller GC, Clarke JW, Potter JL, Bridgewater LC. Biochem J. 2004 Oct 1; 383(Pt 1):37-43.

[Biochem J. 2004]
ReviewThe role of structural genes in the pathogenesis of osteoarthritic disorders.
Reginato AM, Olsen BR. Arthritis Res. 2002; 4(6):337-45. Epub 2002 Aug 30.

[Arthritis Res. 2002]
» See all...

All links from this record

Related Articles
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Compound (MeSH Keyword)
PubChem chemical compound records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Gene
Gene records that cite the current articles. Citations in Gene are added manually by NCBI or imported from outside public resources.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
HomoloGene
HomoloGene clusters of homologous genes and sequences that cite the current articles. These are references on the Gene and sequence records in the HomoloGene entry.
Nucleotide (RefSeq)
NCBI nucleotide Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (RefSeq)
NCBI protein Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Taxonomy via GenBank
Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).
UniGene
UniGene clusters of expressed sequences that are associated with the current articles through references on the clustered sequence records and related Gene records.
Protein
Protein translation features of primary database (GenBank) nucleotide records reported in the current articles as well as Reference Sequences (RefSeqs) that include the articles as references.
GEO Profiles
Gene Expression Omnibus (GEO) Profiles of molecular abundance data. The current articles are references on the Gene record associated with the GEO profile.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.
Cited in Books
NCBI Bookshelf books that cite the current articles.

Recent activity

Clear Turn Off Turn On

Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Wei...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).
T-cell epitopes in variable segments of Chlamydia trachomatis major outer membrane protein...T-cell epitopes in variable segments of Chlamydia trachomatis major outer membrane protein elicit serovar-specific immune responses in infected humans.
Fournier's gangrene after genital piercing.Fournier's gangrene after genital piercing.
Fever following immunization.Fever following immunization.
Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease.Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease.

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

» See more...

PubMed

Display Settings:

Send to:

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 Types, MeSH Terms, Substances, Grant Support

Publication Types:

MeSH Terms:

Substances:

Grant Support:

LinkOut - more resources

Full Text Sources:

Medical:

Molecular Biology Databases:

Libraries:

Supplemental Content

Related articles

Cited by 7 PubMed Central articles

All links from this record

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information