BLEPHAROPHIMOSIS SYNDROME IS LINKED TO CHROMOSOME 3Q

Blepharophimosis syndrome (BPES, blepharophimosis eyelid syndrome) is a distinctive congenital eyelid malformation which can occur sporadica lly or be inherited in an autosomal dominant fashion. Previous reports have described associated cytogenetic abnormalities on chromosome 3q. We have ascertained and sampled two BPES families with apparent autos omal dominant inheritance and have tested for linkage with 17 polymorp hic markers on 3q. Multipoint analysis generated a maximum LOD score o f 3.23 using the markers RHO, ACPP and D3S1238. No evidence of genetic heterogeneity was observed. These studies provide the first non-cytog enetic evidence that a defective gene responsible for BPES is located on 3q22.