Different mutations in carbohydrate sulfotransferase 6 (CHST6) gene cause macular corneal dystrophy types I and II in a single sibship

American Journal of Ophthalmology

Volumn 139, Issue 6, 2005, Pages 1118-1120

  Liu, Ning Pu ^a,b   Bao, Wenjun ^a   Smith, Clayton F ^a   Vance, Jeffery M ^a   Klintworth, Gordon K ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CARBOHYDRATE SULFOTRANSFERASE 6; NUCLEOTIDE; SULFOTRANSFERASE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; COMPARATIVE STUDY; CORNEA DYSTROPHY; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HAPLOTYPE; HOMOZYGOSITY; HUMAN; LABORATORY; MACULAR CORNEAL DYSTROPHY TYPE I; MACULAR CORNEAL DYSTROPHY TYPE II; MALE; PREDICTION; PRIORITY JOURNAL; SIBLING;

CODON, NONSENSE; CORNEAL DYSTROPHIES, HEREDITARY; FEMALE; HAPLOTYPES; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; SIBLINGS; SULFOTRANSFERASES;

EID: 20444450103     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajo.2004.11.054     Document Type: Article

References (5)

1. J.M. Vance, F. Jonasson, F. Lennon Linkage of a gene for macular corneal dystrophy to chromosome 16 Am J Hum Genet 58 1996 757 762
2. T.O. Akama, K. Nishida, J. Nakayama Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene Nat Genet 26 2000 237 241
3. N.P. Liu, J. Baldwin, F. Lennon Coexistence of macular corneal dystrophy types I and II in a single sibship Br J Ophthalmol 82 1998 241 244
4. N.P. Liu, S. Dew-Knight, M. Rayner Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland Mol Vis 6 2000 261 264
5. G.K. Klintworth The molecular genetics of the corneal dystrophies - current status Front Biosci 8 2002 687 713