Abnormal Splicing in the Final Intron of PRX Results in Dominant Congenital Cataract Without Neurological Phenotype

Splicing defects leading to the replacement of L-PRX by S-PRX and/or the presence of an aberrant L-PRX exert a significant negative effect on lens development, possibly through a gain-of-function or dominant-negative mechanism distinct from the one implicated in recessive neurological phenotypes.