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E. Ahn, J. Mok, S.-H. Park, S.-H. Chung, J.-M. Park, C.-K. Joo; Carbohydrate Sulfotransferase 6 (CHST6) Gene Mutations in Korean Patients With Macular Corneal Dystrophy. Invest. Ophthalmol. Vis. Sci. 2010;51(13):4650.
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© ARVO (1962-2015); The Authors (2016-present)
To investigate mutations in the carbohydrate sulfotransferase gene (CHST6), which located on 16q22, in a Korean patients with macular corneal dystrophy (MCD)
Genomic DNA was extracted from blood samples of one family and unrelated patients with MCD visited the Department of Ophthalmology at the Catholic University Medical Center. To screen genetic mutations in 4 exons, 5’- and 3’-untranslated region of CHST6 gene were performed using polymerase chain reaction and direct sequencing. Control individuals were selected from the general population without MCD.
Analysis of CHST6 revealed 10 different mutations. These mutations were comprised of five novel missense mutations (Thr12Asn, Ser118Phe, Pro186Arg, Arg205Trp, Tyr358His) and two missense mutations (Gln 122 Pro and Glu274Lys), one novel nucleotide mutation in 3’ UTR (EX3+2770 T>G), one mutation in 5’ UTR (EX1-334_335CC>TT), deletion and insertion mutations (EX1-245insC and EX3+802delC). Among them, Thr12Asn showed unrelated MCD patients.
Our data is the first report of ten heterozygous mutations of CHST6 gene included six novel mutations in Korean patients with MCD. It is suggested that CHST6 mutations may act as a potential susceptibility mutation for Korean patients with Macular corneal dystrophy.
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