Autosomal dominant congenital cataract in a Libyan Jewish family: cosegregation with a reciprocal chromosomal translocation [t(3;5)(p22.3; p15.1)]

PURPOSE To describe a Jewish family of Libyan ancestry in which autosomal dominant congenital cataract segregates with an apparently balanced reciprocal chromosomal translocation. METHODS Detailed family history and clinical data were recorded. Cytogenetic studies were performed on 13 family members. RESULTS Embryonal cataracts cosegregated through three generations with a balanced chromosomal translocation [t(3;5)(p22.3; p15.1)] while the unbalanced translocation product, 46,XY,-5,+der(5)t(3:5)(p22:p15.1), had multiple congenital anomalies without cataracts. CONCLUSIONS These observations suggest that an altered function of a gene at one of the translocation breakpoints on chromosome 3p22.3 or 5p15.1 is causally related to cataract development.