Q118X mutation of M11 gene caued gelatinou drop-like corneal dytrophy: the p501t of BIGH3 gene found in a family with gelatinou drop-like corneal dytrophy

%PURPOE: To analyze BIGH3 and M11 gene in two Japanee brother with gelatinou drop-like corneal dytrophy and five unaffected family member. METHOD: DNA wa extracted, and each part of the two gene wa amplified and directly equenced. REULT: On the BIGH3 gene, a heterozygou P501T mutation wa found in the elder brother and three unaffected family member. On the M11 gene, both brother with gelatinou drop-like corneal dytrophy howed a homozygou Q118X mutation, wherea all unaffected member were heterozygou. CONCLUION: The Q118X mutation of M11 gene caued gelatinou drop-like corneal dytrophy. Although the P501T of the BIGH3 gene found in thi pedigree wa preciely the one reported for lattice corneal dytrophy IIIA, no clinical feature wa hown, even in the 85-year-old father. Thi fact how that the P501T mutation for LCDIIIA ha low penetrance