Lattice corneal dytrophy type 1 in a Canadian kindred i aociated with the Arg124 → Cy mutation in the kerato-epithelin gene Original Reearch Article

Purpoe To identify the mutation reponible for lattice corneal dytrophy type 1 in an extended Canadian kindred. Method A earch for a mutation in the candidate gene, kerato-epithelin, wa carried out by ingle-trand conformation polymorphim and equencing analye. Reult A C → T mutation at poition 417 wa detected in exon 4 of the kerato-epithelin gene, which i expected to caue an Arg124 → Cy change. Thi i the ame nucleotide change decribed previouly in two wi familie with lattice corneal dytrophy type 1. Concluion Although the poibility that the three familie (two previouly decribed wi familie and thi Canadian kindred) are related ha not been excluded, it appear that the unique phenotype of lattice corneal dytrophy type 1 i caued by thi particular amino acid change.