Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen

Abstract

A mild autosomal dominant form of spondylo-epiphyseal dysplasia (SED) is present in several generations of a South African family of English stock. This phenotype differs from that of any other previously described. Although type II collagen defects have been found in some families with SED congenita, the phenotype in our family showed discordant segregation with COL2A1 gene associated restriction fragment length polymorphisms (RFLPs), the markers for the structural locus of type II collagen. It is evident that the SED group of disorders is heterogeneous.