title: Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy.
abstract: Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy. Macular corneal dystrophy (MCD) is an autosomal recessive disorder characterized by grayish white opacities in the cornea. It is caused by mutations in the carbohydrate sulfotransferase-6 (CHST6) gene, which codes for the enzyme corneal N-acetylglucosamine-6-sulfotransferase. This enzyme catalyzes the sulfation of keratan sulfate, an important component of corneal proteoglycans. We screened 31 patients from 26 families with MCD for mutations in the coding region of the CHST6 gene. Twenty-six different mutations were identified, of which 14 mutations are novel. The novel mutations are one nonsense mutation found in one patient (Trp2Ter), one frameshift (insertion plus deletion) mutation in two patients (His335fs), and 12 missense mutations (Leu3Met, Ser54Phe, Val56Arg, Ala73Thr, Ser98Leu, Cys165Trp, Ser167Phe, Phe178Cys, Leu193Pro, Pro204Arg, Arg272Ser, and Arg334Cys) in 11 patients. These data demonstrate a high degree of allelic heterogeneity of the CHST6 gene in patient populations with MCD from Southern India, where this disease may have a relatively higher prevalence than in outbred communities.
authors.affiliation: Kallam Anji Reddy Molecular Genetics Laboratory, L.V. Prasad Eye Institute, L.V. Prasad Marg, Banjara Hills, Hyderabad, India.
authors.forename: A
authors.initials: A
authors.lastname: Sultana
authors.forename: M S
authors.initials: MS
authors.lastname: Sridhar
authors.forename: G K
authors.initials: GK
authors.lastname: Klintworth
authors.forename: D
authors.initials: D
authors.lastname: Balasubramanian
authors.forename: C
authors.initials: C
authors.lastname: Kannabiran
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D000595:Amino Acid Sequence; D002648:Child; D018389:Codon, Nonsense; D003241:Consanguinity; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D018740:Genetic Heterogeneity; D006801:Humans; D007194:India; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D016415:Sequence Alignment; D015238:Sulfotransferases / Q000235:genetics*; D000097811:Carbohydrate Sulfotransferases
chemical_list: D018389:Codon, Nonsense; D015238:Sulfotransferases; D000097811:Carbohydrate Sulfotransferases