Identification and characterization of a novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy.

Abstract

A novel TACSTD2 C119Y mutation leading to an amino acid substitution was identified in two affected siblings of a family. Protein modeling studies revealed an exposed cysteine residue, which might cause interchain disulfide bond formation and protein aggregation leading to disturbed cell junctions of the corneal epithelium.