title: Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint unlinked to COL2A1.
abstract: Molecular investigations have been undertaken in several separate large South African families with autosomal dominant skeletal dysplasias in which premature degenerative osteoarthropathy of the hip joint was the major manifestation. There are sometimes additional minor changes in the spine and these conditions fall into the general spondyloepiphyseal dysplasia (SED) nosological category. In some kindreds, linkage between phenotype and the type II collagen gene (COL2A1) has been established, while in others there is no linkage. We have now completed molecular linkage investigations in an Afrikaner family named Beukes, in which 47 members in 6 generations have premature osteoarthropathy of the hip joint. A LOD score of minus infinity indicates that this condition is not the result of a defect of the COL2A1 gene.
authors.affiliation: Department of Human Genetics, University of Cape Town, Medical School, Republic of South Africa.
authors.forename: P
authors.initials: P
authors.lastname: Beighton
authors.forename: H J
authors.initials: HJ
authors.lastname: Cilliers
authors.forename: R
authors.initials: R
authors.lastname: Ramesar
mesh_terms: D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003094:Collagen / Q000235:genetics*; D015342:DNA Probes; D005799:Genes, Dominant; D008040:Genetic Linkage; D006618:Hip Dislocation, Congenital / Q000235:genetics*; D006801:Humans; D006824:Hybridization, Genetic; D010009:Osteochondrodysplasias / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D013019:South Africa
chemical_list: D015342:DNA Probes; D003094:Collagen