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E71Q mutation results in a non-conservative amino acid change in a highly conserved functional domain of the human CHST6 that is essential for enzyme activity as the cause of Macular corneal dystrophy.
Three novel and six previously reported disease-causing CHST6 mutations were identified in Korean patients with macular corneal dystrophy.
Homozygous or compound heterozygous CHST6 mutations were identified in all cases, including two novel mutations, c.13C>T; p.(Arg5Cys) and c.289C>T; p.(Arg97Cys).
This novel gene mutation expands the mutation spectrum of the CHST6 gene and contributes to the study of molecular pathogenesis of corneal dystrophy.
This study improves the knowledge of the genetic features of Mexican patients with corneal stromal dystrophies by identifying mutations in the TGFBI (show TGFBI ELISA Kits), CHST6, and GSN (show GSN ELISA Kits) genes.
Macular corneal dystrophy (MCD (show MLYCD ELISA Kits)) may result from other changes in the regulatory elements of CHST6 or from genetic heterogeneity.
analysis of pathogenic mutations of TGFBI (show TGFBI ELISA Kits) and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies
CHST6 gene sequencing revealed 2 heterozygous mutations in case 1, a p.Arg211Gln and a novel mutation of p.Arg177Gly and a novel homozygous mutation of p.Pro186Arg in case 2.
CHST6 mutations may be responsible for the pathogenesis of macular corneal dystrophy (MCD) in Chinese patients.
Novel mutations are thought to result in loss of corneal sulfotransferase function.
The protein encoded by this gene is an enzyme that catalyzes the transfer of a sulfate group to the GlcNAc residues of keratan. Keratan sulfate helps maintain corneal transparency. Defects in this gene are a cause of macular corneal dystrophy (MCD).
carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
, carbohydrate sulfotransferase 6-like
, carbohydrate sulfotransferase 5
, N-acetylglucosamine 6-O-sulfotransferase 5
, carbohydrate sulfotransferase 6
, corneal N-acetylglucosamine 6-sulfotransferase
, corneal N-acetylglucosamine-6-O-sulfotransferase
, galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 4-beta