AUTOSOMAL-DOMINANT (BEUKES) PREMATURE DEGENERATIVE OSTEOARTHROPATHY OF THE HIP-JOINT UNLINKED TO COL2A1

Molecular investigations have been undertaken in several separate larg e South African families with autosomal dominant skeletal dysplasias i n which premature degenerative osteoarthropathy of the hip joint was t he major manifestation. There are sometimes additional minor changes i n the spine and these conditions fall into the general spondyloepiphys eal dysplasia (SED) nosological category. In some kindreds, linkage be tween phenotype and the type II collagen gene (COL2A1) has been establ ished, while in others there is no linkage. We have now completed mole cular linkage investigations in an Afrikaner family named Beukes, in w hich 47 members in 6 generations have premature osteoarthropathy of th e hip joint. A LOD score of minus infinity indicates that this conditi on is not the result of a defect of the COL2A1 gene. (C) 1994 Wiley-Li ss, Inc.