An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract

► A novel mutation of MIP (c.494 G > A) is associated with autosomal dominant congenital cataracts. ► The mutation causes a substitution of aspartate for glycine at position 165 in the lens fiber protein aquaporin0. ► The mutant protein shows reduced levels and improper trafficking to the plasma membrane. ► Expression of the mutant protein in Xenopus oocytes did not induce an increase in water permeability.