A new mutation (Leu569Arg) within Exon 13 of the TGFBI (BIGH3) gene caue lattice corneal dytrophy type I

Purpoe To decribe an American family with lattice corneal dytrophy type I, which aociate with a novel mutation, Leu569Arg, of the TGFBI (BIGH3) gene. Deign Experimental tudy. Method Genomic DNA wa extracted from buccal epithelial cell of four affected member of an American family with lattice corneal dytrophy type I. All 17 exon of the TGFBI gene were evaluated by PCR amplification and direct equencing. Clinical and hitologic data were alo collected. Reult Three generation of thi family have been poitively diagnoed with lattice corneal dytrophy, indicating autoomal dominant inheritance. We identified a heterozygou point mutation that aociate with the dieae phenotype. The ingle bae-pair ubtitution (T1753G) reult in an amino acid ubtitution (Leu569Arg) in exon 13 of the TGFBI gene. Concluion ubtitution of arginine for leucine at poition 569 of the TGFBI gene reult in a form of lattice corneal dytrophy that i phenotypically imilar to other genetically ditinct form of type I dieae. Thi i the firt report of dieae correlated with change in exon 13 of the TGFBI gene.