Leu518Pro mutation of the βig-h3 gene caue lattice corneal dytrophy type I

PURPOE: To decribe a Japanee family with lattice corneal dytrophy type I, which egregate with a novel mutation, Leu518Pro of the βig-h3 gene. METHOD: DNA wa extracted from leukocyte in four member (three affected and one unaffected) of a Japanee family with lattice corneal dytrophy type I. Exon 12 of the βig-h3 gene wa amplified and analyzed with a molecular biologic method. Clinical data were alo collected. REULT: Three generation of thi family have been poitively diagnoed with lattice corneal dytrophy, indicating autoomal dominant inheritance. We found a heterozygou point mutation that egregate with the dieae phenotype. It wa a ingle bae-pair tranition (CTG to CCG, Leu to Pro). CONCLUION: Although it i extremely rare compared with the Arg124Cy mutation of the βig-h3 gene, Leu518Pro mutation of the βig-h3alo caue lattice corneal dytrophy type I.