A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.

Abstract

This is the first reported case of a congenital lamellar cataract phenotype associated with the mutation of Arg339His (P.R339H) in BFSP2. It highlights the physiologic importance of the beaded filament protein and demonstrates a possible mechanism of action for the mutant gene.