title: 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.affiliation: Department of Molecular Developmental Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
authors.forename: Tamar
authors.initials: T
authors.lastname: Harel
authors.forename: Ronen
authors.initials: R
authors.lastname: Rabinowitz
authors.forename: Netta
authors.initials: N
authors.lastname: Hendler
authors.forename: Aharon
authors.initials: A
authors.lastname: Galil
authors.forename: Hagit
authors.initials: H
authors.lastname: Flusser
authors.forename: Juan
authors.initials: J
authors.lastname: Chemke
authors.forename: Libe
authors.initials: L
authors.lastname: Gradstein
authors.forename: Tova
authors.initials: T
authors.lastname: Lifshitz
authors.forename: Rivka
authors.initials: R
authors.lastname: Ofir
authors.forename: Khalil
authors.initials: K
authors.lastname: Elbedour
authors.forename: Ohad S
authors.initials: OS
authors.lastname: Birk
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001848:Bone Diseases, Developmental / Q000473:pathology; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D024161:Collagen Type XI / Q000235:genetics*; D003241:Consanguinity; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D004392:Dwarfism / Q000473:pathology*; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D008040:Genetic Linkage; D006239:Haplotypes; D006319:Hearing Loss, Sensorineural / Q000473:pathology; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation; D010009:Osteochondrodysplasias / Q000473:pathology; D010375:Pedigree; D013577:Syndrome
chemical_list: C499319:COL11A2 protein, human; D024161:Collagen Type XI; D004247:DNA