Nance-Horan Syndrome: Localization within the region Xp21.1-Xp22.3 by linkage analysis

Nance-Horan Syndrome (NHS) or X-linked cataract-dental syndrome (MIM 302350) is a disease of unknown pathogenesis characterized by congenital cataracts and dental anomalies. We performed linkage analysis in three kindreds with NHS by using six RFLP markers between Xp11.3 and Xp22.3. Close linkage was found between NHS and polymorphic loci DXS43 (θ = 0 with lod score 2.89), DXS41 (Θ = 0 with lod score 3.44), and DXS67 (θ = 0 with lod score 2.74), defined by probes pD2, p99-6, and pB24, respectively. Recombinations were found with the marker loci DXS84 (θ = .04 with lod score 4.13), DXS143 (θ = .06 with lod score 3.11) and DXS7 (θ = .09 with lod score 1.68). Multipoint linkage analysis determine the NHS locus to be linked completely to DXS41 (lod score = 7.07). Our linkage results, combined with analysis of Xp interstitial deletions, suggest that the NHS locus is located within or close to the Xp22.1-Xp22.2 region.