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N. Liu, W. Bao, C.F. Smith, J.M. Vance, G.K. Klintworth; Different Mutations in Carbohydrate Sulfotransferase 6 (CHST6) Gene Cause Macular Corneal Dystrophy Types I and II in a Single Sibship . Invest. Ophthalmol. Vis. Sci. 2005;46(13):4929.
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Purpose: The aim of this study was to examine the carbohydrate sulfotransferase 6 (CHST6) gene for mutations in a sibship with both macular corneal dystrophy (MCD) types I and II. Methods: The coding region of the CHST6 gene was examined for mutations. Results: One sibling with MCD type I was due to a homozygous C1110T (Arg140end) mutation in CHST6. Two MCD type II individuals exhibited three heterozygous nucleotide changes: C1110T, G1360A (Gly223Asp), and G1685T (Gln331His). Analysis of the upstream region was performed on one individual with MCD type II and no upstream deletion or substitution was found. Conclusions: These finding fit the haplotype analysis that we reported previously and indicates that the predicted protein that is encoded by CHST6 is more severely affected in the individual with MCD type I than in the siblings with MCD type II.
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