Am J Med Genet A. 2005 Jan 1;132A(1):33-5.

COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).

Harel T, Rabinowitz R, Hendler N, Galil A, Flusser H, Chemke J, Gradstein L, Lifshitz T, Ofir R, Elbedour K, Birk OS.

Source

Department of Molecular Developmental Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

Abstract

Autosomal recessive Weissenbacher-Zweymuller syndrome (WZS) is a skeletal dysplasia characterized by rhizomelic dwarfism and severe hearing loss. Mutations in the COL11A2 gene have been implicated in causing the autosomal dominant form of this syndrome as well as non-ocular Stickler syndrome and the autosomal recessive syndrome otospondylomegaepiphyseal dysplasia (OSMED). In a consanguineous Bedouin tribe living in Southern Israel, five individuals affected by autosomal recessive WZS were available for genetic analysis. Homozygosity of a mutation in the COL11A2 gene was found in all affected individuals. This finding lends molecular support to the clinical notion that autosomal recessive WZS and OSMED are a single entity.

PMID:: 15558753; [PubMed - indexed for MEDLINE]

LinkOut - more resources

Full Text Sources

Medical

Research Materials

anti-Collagen, Type XI, alpha 2 (COL11A2) antibody - antibodies-online

Supplemental Content

Save items

Related citations in PubMed

Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene. [Am J Hum Genet. 2000]
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.
Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kääriäinen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, et al. Am J Hum Genet. 2000 Feb; 66(2):368-77.
A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. [Am J Hum Genet. 2006]
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.
A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient. [Am J Med Genet A. 2011]
A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient.
Kayserili H, Wollnik B, Güven G, Emiroğlu MU, Başerer N, Uyguner ZO. Am J Med Genet A. 2011 Jan; 155A(1):180-5.
Review Weissenbacher-Zweymüller syndrome: a distinct autosomal recessive skeletal dysplasia. [Am J Med Genet. 1992]
Review Weissenbacher-Zweymüller syndrome: a distinct autosomal recessive skeletal dysplasia.
Chemke J, Carmi R, Galil A, Bar-Ziv Y, Ben-Ytzhak I, Zurkowski L. Am J Med Genet. 1992 Aug 1; 43(6):989-95.
Review A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome. [Am J Med Genet A. 2004]
Review A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome.
Vuoristo MM, Pappas JG, Jansen V, Ala-Kokko L. Am J Med Genet A. 2004 Oct 1; 130A(2):160-4.

See reviews... See all...

Cited by 1 PubMed Central article

Audiological findings in otospondylomegaepiphyseal dysplasia (OSMED) associated with a novel mutation in COL11A2. [Int J Pediatr Otorhinolaryngol...]
Audiological findings in otospondylomegaepiphyseal dysplasia (OSMED) associated with a novel mutation in COL11A2.
Tokgöz-Yılmaz S, Sahlı S, Fitoz S, Sennaroğlu G, Tekin M. Int J Pediatr Otorhinolaryngol. 2011 Mar; 75(3):433-7. Epub 2011 Jan 3.

Related information

Related Citations
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 (GeneRIF)
Gene records that have the current articles as Reference into Function citations (GeneRIFs). NLM staff reviewing the literature while indexing MEDLINE add GeneRIFs manually.
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.
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.

Recent activity

Clear Turn Off Turn On

COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller sy...
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.

PubMed
19-Nor-deoxycorticosterone production from aldosterone-producing adenomas.
19-Nor-deoxycorticosterone production from aldosterone-producing adenomas.
Hypertension. 1992 Apr ;19(4):362-4.

PubMed
Bite force production capability and efficiency in Neandertals and modern humans...
Bite force production capability and efficiency in Neandertals and modern humans.
Am J Phys Anthropol. 2005 Jun ;127(2):129-51.

PubMed
Predictors of survival after liver transplantation for hepatocellular carcinoma ...
Predictors of survival after liver transplantation for hepatocellular carcinoma associated with Hepatitis C.
Liver Transpl. 2004 Dec ;10(12):1478-86.

PubMed
Computational method to evaluate ankle postural stiffness with ground reaction f...
Computational method to evaluate ankle postural stiffness with ground reaction forces.
J Rehabil Res Dev. 2004 Mar ;41(2):207-14.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).

Source

Abstract

Publication Types, MeSH Terms, Substances

Publication Types

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Medical

Research Materials

Supplemental Content

Save items

Related citations in PubMed

Cited by 1 PubMed Central article

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information