We surveyed the literature for candidate human diseases which might be associated defects in the dystrotelin gene; its position in chromosomal band 2q33.3 means that it is heterozygously deleted in several patients with complex but subtle phenotypes [63], and disorders such as early-onset osteoarthritis[64] and spastic ataxia[65] have recently been linked to markers nearby. Here, DYTN is linked to osteoarthritis.