Different Mutation in Carbohydrate ulfotranferae 6 (CHT6) Gene Caue Macular Corneal Dytrophy Type I and II in a ingle ibhip

Purpoe The aim of thi tudy wa to examine the carbohydrate ulfotranferae 6 (CHT6) gene for mutation in a ibhip with both macular corneal dytrophy (MCD) type I and II. Deign Clinically relevant laboratory invetigation. Method The coding region of the CHT6 gene wa examined for mutation. Reult In one ibling, MCD type I wa due to a homozygou C1110T (Arg140end) mutation in CHT6. Two MCD type II individual exhibited three heterozygou nucleotide change: C1110T, G1360A (Gly223Ap), and G1685T (Gln331Hi). Analyi of the uptream region wa performed on one individual with MCD type II, and no uptream deletion or ubtitution wa found. Concuion Thee finding fit the haplotype analyi that we reported previouly and indicate that the predicted protein that i encoded by CHT6 i more everely affected in the individual with MCD type I than in the ibling with MCD type II.