A GENE FOR BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUS SYNDROME MAPS TO CHROMOSOME 3Q23

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an auto somal dominant malformation of the eyelids that may severely impair vi sual function. Chromosomal aberrations involving chromosomes 3q23, 3p2 5 and 7p34 have been reported in BPES but the disease gene has not bee n hitherto localized by linkage analysis. We have mapped a gene for BP ES to chromosome 3q23 in a large French pedigree (Z(max) = 4.62 at The ta = 0 for probe AFM 182yc5 at locus D3S1549). The best estimate for t he location of the disease gene is at locus D3S1549, between the loci D3S1292 and D3S1555 (maximum lod score of 5.10).