A Novel Form of "Central Pouchlike" Cataract, with Sutural Opacities, Maps to Chromosome 15q21-22

Congenital cataractis a clinically and genetically highly heterogeneous eye disorder, with autosomaldominant inheritance being most common. We investigated a large seven-generation family with 74 individuals affected by autosomaldominant congenital cataract(ADCC). The phenotype in this family can be described as “central pouchlike” cataractwith sutural opacities, and it differs from the other mapped cataracts. We performed linkage analysis with microsatellite markers in this family and excluded the known candidate genes. A genomewide search revealed linkage to markers on chromosome 15, with a maximum two-point LOD score of 5.98 at θ=0 with marker D15S117. Multipoint analysis also gave a maximum LOD score of 5.98 at D15S117. Multipoint and haplotype analysis narrowed the cataractlocus to a 10-cM region between markers D15S209 and D15S1036, closely linked to marker D15S117 in q21-q22 region of chromosome 15. This is the first report of a gene for a clinically new type of ADCC at 15q21-22 locus.