Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations

Cornea

Volumn 22, Issue 6, 2003, Pages 508-511

  Ha, Nguyen Thanh ^a   Chau, Hoang Minh ^b   Cung, Le Xuan ^a,b   Thanh, Ton Kim ^b   Fujiki, Keiko ^a   Murakami, Akira ^a   Hiratsuka, Yoshimune ^a   Hasegawa, Nobuko ^a   Kanai, Atsushi ^a  

^a JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b National Institute of Ophthalmology   (Viet Nam)

Author keywords

2 generations; Compound heterozygous; Insertion mutation; Macular corneal dystrophy; Vietnamese families

Indexed keywords

ARTICLE; CHST6 GENE; CLINICAL ARTICLE; CONGENITAL CORNEA DYSTROPHY; FEMALE; GENE; GENE INSERTION; GENE MUTATION; HUMAN; MACULAR CORNEAL DYSTROPHY; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; STOP CODON;

ADOLESCENT; ADULT; ARGININE; BASE SEQUENCE; CASE-CONTROL STUDIES; CODON, TERMINATOR; CORNEAL DYSTROPHIES, HEREDITARY; FEMALE; FRAMESHIFT MUTATION; GLUTAMINE; HETEROZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; SULFOTRANSFERASES; VIETNAM;

EID: 0042344730     PISSN: 02773740     EISSN: None     Source Type: Journal    
DOI: 10.1097/00003226-200308000-00004     Document Type: Article

References (19)

1. Klintworth GK. Research into the pathogenesis of macular corneal dystrophy. Trans Ophthalmol Soc U K. 1980;100:186-194.
2. Donnenfeld ED, Cohen EJ, Ingraham HJ, et al. Corneal thinning in macular corneal dystrophy. Am J Ophthalmol. 1986;3:112-113.
3. Yang CJ. SundarRaj N, Thonar EJ. Immunohistochemical evidence of heterogeneity in macular corneal dystrophy. Am J Ophthalmol. 1988;106:65-71.
4. Klintworth GK, Oshima E. Al-Rajhi, et al. Macular corneal dystrophy in Saudi Arabia: a study of 56 cases and recognition of a new immunophenotype. Am J Ophthalmol. 1997;124:9-18.
5. Snip RC, Kenyon KR, Green WR. Macular corneal dystrophy: ultrastructural pathology of corneal endothelium and Descemet's membrane. Invest Ophthalmol Vis Sci. 1973;12:88-97.
6. Francois J, Hansenns M, Teuchy H. Ultrastructural findings in corneal macular dystrophy (Groenouw type II). Ophthalmic Res. 1975;7:80-98.
7. Vance JM, Jonasson F, Lennon F, et al. Linkage of a gene for macular corneal dystrophy to chromosome 16. Am J Hum Genet. 1996;58:757-762.
8. Liu NP, Baldwin J, Jonasson F, et al. Haplotype analysis in Icelandic families defines a minimal interval for the macular corneal dystrophy type I gene. Am J Hum Genet. 1998;63:912-917.
9. Liu NP, Dew-Knight S, Jonasson F, et al. Physical and genetic mapping of the macular corneal dystrophy locus on chromosome 16q and exclusion of TAT and LCAT as candidate genes. Mol Vis. 2000;6:95-100 (available on line at http://www.molvis.org/molvis/v6/p95/).
10. Akama TO, Nishida K, Nakayama J, et al. Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulfotransferase gene. Nat Genet. 2000;26:237-241.
11. Liu NP, Dew-Knight S, Rayner M, et al. Mutations in corneal carbohydrate sulfotransferase6 gene (CHST6) cause macular corneal dystrophy in Iceland. Mol Vis. 2000;6:261-264 (available on line at http://www.molvis.org/molvis/v6/p261/).
12. El-Ashry MF, El-Aziz MM, Wilkins S, et al. Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy. Invest Ophthalmol Vis Sci. 2002;43:377-382.
13. Bao W, Smith CF, Al-Rajhi A, et al. Novel mutation in the CHST6 gene in Saudi Arabic patients with macular corneal dystrophy [ARVO abstract no. 2609]. Invest Ophthalmol Vis Sci. 2001;42:S483.
14. Thonar EJ-MA, Lenz ME, Klintworth GK, et al. Quantification of keratan sulfate in blood as a marker of cartilage catabolism. Arthritis Rheum. 1985;28:1367-1376.
15. Hasegawa N, Torii T, Nagaoka I, et al. Measurement of activities of human serum sulfotransferases which transfer sulfate to the galactose residues of keratan sulfate and to the nonreducing end N-acetylglucosamine residues of N-acetyllactosamine trisaccharide: comparison between normal controls and patients with macular corneal dystrophy. J Biochem. 1999;125:245-252.
16. Hasegawa N, Takayoshi T, Kato T, et al. Decreased GlcNAc 6-Osulfotransferase activity in the cornea with macular corneal dystrophy. Invest Ophthalmol Vis Sci. 2000;41:3670-3677.
17. Blin N, Stafford DW. A general method for isolation of high molecular weight DNA from eukaryotes. Nucleic Acids Res. 1976;3:2303-2308.
18. Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain terminating inhibitors. Proc Natl Acad Sci U S A. 1977;74:5463-5467.
19. Smith LM, Sanders JZ, Kaiser RJ, et al. Fluorescence detection in automated DNA sequence analysis. Nature. 1986;321:674-679.