Proteomic Analysis of Amyloid Corneal Aggregates from TGFBI-H626RLattice Corneal Dystrophy Patient Implicates Serine-Protease HTRA1 in Mutation-Specific Pathogenesis of TGFBIp.
One family, with the R124C mutation, was diagnosed with lattice corneal dystrophy type 1, and the family with the H626R mutation was diagnosed with lattice corneal dystrophy type IIIB.
For the three families, a single heterozygous c.371G>T (R124L) point mutation was found in exon 4 of TGFBI in 14 affected members with RBCD, a single heterozygous c.370C>T (R124C) point mutation was found in exon 4 of TGFBI in four affected members with LCDI, and a single heterozygous c.1877A>G (H626R) point mutation was found in exon 14 of TGFBI in four affected members with LCDI/IIIA.