Autosomal dominant anterior polar cataracts associated with a familial 2;14 translocation.
We describe a family in which autosomal dominant anterior polar cataracts are segregating in four members over three generations with an apparently balanced reciprocal translocation between chromosomes 2 and 14. We conclude that altered function of a gene or genes on chromosomes 2 or 14 are important in the embryological development of the lens.
D002386:Cataract / Q000235:genetics*; D002648:Child; D002900:Chromosomes, Human, 1-3; D002901:Chromosomes, Human, 13-15; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic