COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).
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.
Harel
Tamar
T
Department of Molecular Developmental Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Rabinowitz
Ronen
R
Hendler
Netta
N
Galil
Aharon
A
Flusser
Hagit
H
Chemke
Juan
J
Gradstein
Libe
L
Lifshitz
Tova
T
Ofir
Rivka
R
Elbedour
Khalil
K
Birk
Ohad S
OS
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
C499319:COL11A2 protein, human; D024161:Collagen Type XI; D004247:DNA