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

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.

• Authors: Tamar Harel, Ronen Rabinowitz, Netta Hendler, Aharon Galil, Hagit Flusser, Juan Chemke, Libe Gradstein, Tova Lifshitz, Rivka Ofir, Khalil Elbedour, Ohad S Birk
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 132A Issue 1 Pg. 33-5 (Jan 01 2005) ISSN: 1552-4825 [Print] United States
• PMID: 15558753 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: (c) 2004 Wiley-Liss, Inc.

Chemical References

• COL11A2 protein, human
• Collagen Type XI
• DNA

Topics

• Abnormalities, Multiple (genetics, pathology)
• Bone Diseases, Developmental (pathology)
• Chromosomes, Human, Pair 6 (genetics)
• Collagen Type XI (genetics)
• Consanguinity
• DNA (chemistry, genetics)
• DNA Mutational Analysis
• Dwarfism (pathology)
• Female
• Genes, Recessive (genetics)
• Genetic Linkage
• Haplotypes
• Hearing Loss, Sensorineural (pathology)
• Humans
• Male
• Microsatellite Repeats
• Mutation
• Osteochondrodysplasias (pathology)
• Pedigree
• Syndrome