A comprehensive evaluation of 181 reported CHST6 variants in patients with macular corneal dystrophy
نویسندگان
چکیده
منابع مشابه
CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review.
PURPOSE To evaluate mutations in the carbohydrate sulfotransferase-6 (CHST6) gene in American subjects with macular corneal dystrophy (MCD). METHODS We analyzed CHST6 in 57 patients from 31 families with MCD from the United States, 57 carriers (parents or children), and 27 unaffected blood relatives of affected subjects. We compared the observed nucleotide sequences with those found by numero...
متن کاملMutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity.
PURPOSE Macular corneal dystrophy (MCD) is an autosomal recessive disorder leading to severe visual impairment. The carbohydrate sulfotransferase 6 (CHST6) gene, which encodes the corneal N-acetylglucosamine 6-O-sulfotransferase on 16q22 has been identified as a causative gene for MCD. The purpose of this study was to identify mutations in CHST6 in Japanese patients with MCD and evaluate them b...
متن کاملNovel mutations of CHST6 in Iranian patients with macular corneal dystrophy
PURPOSE To characterize mutations within the carbohydrate sulfotransferase 6 (CHST6) gene in Iranian subjects from 12 families with macular corneal dystrophy (MCD). METHODS Genomic DNA was extracted from peripheral blood of 20 affected patients and 60 healthy volunteers followed by polymerase chain reaction (PCR) and direct sequencing of the CHST6 coding region. The observed nucleotide sequen...
متن کاملMacular corneal dystrophy in a Chinese family related with novel mutations of CHST6
PURPOSE To identify mutations in the carbohydrate sulfotransferase gene (CHST6) for a Chinese family with macular corneal dystrophy (MCD) and to investigate the histopathological changes in the affected cornea. METHODS A corneal button of the proband was obtained by penetrating keratoplasty. The half button and ultrathin sections from the other half button were examined with special stains un...
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ژورنال
عنوان ژورنال: Aging
سال: 2019
ISSN: 1945-4589
DOI: 10.18632/aging.101807