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This is the first molecular analysis of TGFBI and CHST6 in Turkish patients with different types of corneal dystrophies.
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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.
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Three novel and six previously reported disease-causing CHST6 mutations were identified in Korean patients with macular corneal dystrophy.
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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).
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This novel gene mutation expands the mutation spectrum of the CHST6 gene and contributes to the study of molecular pathogenesis of corneal dystrophy.
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Genetic mutation heterogeneity was revealed. No phenotype heterogeneity was revealed among patients with in vivo corneal morphology assessment or histological analysis.
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This study improves the knowledge of the genetic features of Mexican patients with corneal stromal dystrophies by identifying mutations in the TGFBI, CHST6, and GSN genes.
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Macular corneal dystrophy (MCD) may result from other changes in the regulatory elements of CHST6 or from genetic heterogeneity.
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analysis of pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies
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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.
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CHST6 mutations may be responsible for the pathogenesis of macular corneal dystrophy (MCD) in Chinese patients.
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Novel mutations are thought to result in loss of corneal sulfotransferase function.
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patients with MCD (macular corneal dystrophy) combined with those reported in previous studies indicated CHST6 mutational heterogeneity.
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Two mutations (homozygoous R211W and compound heterozygous R211W/A217T) should be subclassified immunohistochemically into new phenotypes of macular corneal dystrophy.
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Mutations identified in the CHST6 gene cosegregated with the disease phenotype in all but one family studied and thus caused macular corneal dystrophy.
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novel frameshift and compound heterozygous mutations might be responsible for macular corneal dystrophy
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Mutations in the coding region of the CHST6 gene are associated with type I MCD (macular corneal dystrophy) in a cohort of patients in southern India.
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We identified 22 (5 nonsense, 5 frameshift, 2 insertion, and 10 missense) mutations in 36 patients from 31 families with MCD (macular corneal dystrophy)
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mutations in the coding region of the CHST6 gene are associated with type I macular corneal dystrophy in a cohort of patients from the United States.
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the stem region of GlcNAc6ST-1 influences substrate specificity, independent of its role in dimerization or Golgi retention.
