Expanding the mutational spectrum in TGFBI-linked corneal dystrophies: Identification of a novel and unusual mutation (Val113Ile) in a family with granular dystrophy.

Abstract

This is the most 5' located mutation detected so far in subjects with TGFBI-linked corneal dystrophy. Valine 113 is strictly conserved in TGFBI from several species and we suggest that the phenotype observed in these patients is related to the unusual location of the mutation. Our results expand the mutational spectrum in the group of TGFBI-linked corneal dystrophies.