Document Detail

Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene.
MedLine Citation:
PMID:  11017086     Owner:  NLM     Status:  MEDLINE    
Macular corneal dystrophy (MCD; MIM 217800) is an autosomal recessive hereditary disease in which progressive punctate opacities in the cornea result in bilateral loss of vision, eventually necessitating corneal transplantation. MCD is classified into two subtypes, type I and type II, defined by the respective absence and presence of sulphated keratan sulphate in the patient serum, although both types have clinically indistinguishable phenotypes. The gene responsible for MCD type I has been mapped to chromosome 16q22, and that responsible for MCD type II may involve the same locus. Here we identify a new carbohydrate sulphotransferase gene (CHST6), encoding an enzyme designated corneal N-acetylglucosamine-6-sulphotransferase (C-GlcNAc6ST), within the critical region of MCD type I. In MCD type I, we identified several mutations that may lead to inactivation of C-GlcNAc6ST within the coding region of CHST6. In MCD type II, we found large deletions and/or replacements caused by homologous recombination in the upstream region of CHST6. In situ hybridization analysis did not detect CHST6 transcripts in corneal epithelium in an MCD type II patient, suggesting that the mutations found in type II lead to loss of cornea-specific expression of CHST6.
T O Akama; K Nishida; J Nakayama; H Watanabe; K Ozaki; T Nakamura; A Dota; S Kawasaki; Y Inoue; N Maeda; S Yamamoto; T Fujiwara; E J Thonar; Y Shimomura; S Kinoshita; A Tanigami; M N Fukuda
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Nature genetics     Volume:  26     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  2000 Oct 
Date Detail:
Created Date:  2000-11-08     Completed Date:  2000-11-08     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  237-41     Citation Subset:  IM    
Glycobiology Program, The Burnham Institute, La Jolla, California, USA.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/AF176838;  AF219990;  AF219991;  AF246718
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MeSH Terms
Amino Acid Sequence
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 16*
Corneal Dystrophies, Hereditary / classification,  enzymology,  genetics*
Expressed Sequence Tags
Genetic Markers
Keratan Sulfate / blood
Molecular Sequence Data
Polymorphism, Restriction Fragment Length
Sequence Alignment
Sequence Homology, Amino Acid
Sulfotransferases / chemistry,  genetics*
Grant Support
Reg. No./Substance:
0/Genetic Markers; 9056-36-4/Keratan Sulfate; EC 2.8.2.-/Sulfotransferases; EC 2.8.2.-/carbohydrate sulfotransferases

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