| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
|
|
|
|||||||
|
|||||||||
1 From the Departments of Molecular Genetics and 4 Pathology, Institute of Ophthalmology, London, United Kingdom; the 2 Department of Ophthalmology, Tanta University Hospitals, Tanta, Egypt; and 3 Moorfields Eye Hospital, London, United Kingdom.
PURPOSE. Macular corneal dystrophy (MCD) is a rare corneal dystrophy that is characterized by abnormal deposits in the corneal stroma, keratocytes, Descemet’s membrane, and endothelium, accompanied by progressive clouding. It has been classified into three immunophenotypes—MCD types I, IA, and II—according to the serum level of sulfated keratan sulfate (KS) and immunoreactivity of the corneal tissue. Recently, mutations in a new carbohydrate sulfotransferase gene (CHST6) encoding corneal glucosamine N-acetyl-6-sulfotransferase (C-GlcNac-6-ST) have been identified as the cause of MCD. Mutation screening of the CHST6 gene has been undertaken to identify the underlying mutations in five unrelated British families with MCD.
METHODS. DNA was extracted from venous blood obtained from all participants, and the coding region of CHST6 was amplified by polymerase chain reaction (PCR). The PCR products were analyzed by direct sequencing and restriction enzyme digestion. Enzyme-linked immunosorbent assay (ELISA) was performed to assess the presence of KS in serum from the probands of MCD-affected families participating in the study.
RESULTS. Six novel missense mutations—four homozygous and two compound heterozygous—were identified in the CHST6 gene. The ELISA showed that the disease in all patients participating in the study was of MCD type I, including the subtype IA.
CONCLUSIONS. These novel mutations are thought to result in loss of corneal sulfotransferase function, which would account for the MCD phenotype.
This article has been cited by other articles:
|
|
 |
|
  P Liskova, B Veraitch, K Jirsova, M Filipec, A Neuwirth, N D Ebenezer, P G Hysi, A J Hardcastle, S J Tuft, and S S Bhattacharya Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation Br. J. Ophthalmol., February 1, 2008; 92(2): 265 - 267. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. J. Aldave and B. Sonmez Elucidating the Molecular Genetic Basis of the Corneal Dystrophies: Are We There Yet? Arch Ophthalmol, February 1, 2007; 125(2): 177 - 186. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 Y. Hayashida, T. O. Akama, N. Beecher, P. Lewis, R. D. Young, K. M. Meek, B. Kerr, C. E. Hughes, B. Caterson, A. Tanigami, et al. Matrix morphogenesis in cornea is mediated by the modification of keratan sulfate by GlcNAc 6-O-sulfotransferase PNAS, September 5, 2006; 103(36): 13333 - 13338. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. F. Warren, A. J. Aldave, M. Srinivasan, E. J. Thonar, A. B. Kumar, V. Cevallos, J. P. Whitcher, and T. P. Margolis Novel Mutations in the CHST6 Gene Associated With Macular Corneal Dystrophy in Southern India Arch Ophthalmol, November 1, 2003; 121(11): 1608 - 1612. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 N. Iida-Hasegawa, A. Furuhata, H. Hayatsu, A. Murakami, K. Fujiki, K. Nakayasu, and A. Kanai Mutations in the CHST6 Gene in Patients with Macular Corneal Dystrophy: Immunohistochemical Evidence of Heterogeneity Invest. Ophthalmol. Vis. Sci., August 1, 2003; 44(8): 3272 - 3277. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
N. T. Ha, H. M. Chau, L. X. Cung, T. K. Thanh, K. Fujiki, A. Murakami, Y. Hiratsuka, and A. Kanai Mutation Analysis of the Carbohydrate Sulfotransferase Gene in Vietnamese with Macular Corneal Dystrophy Invest. Ophthalmol. Vis. Sci., August 1, 2003; 44(8): 3310 - 3316. [Abstract] [Full Text] [PDF]
|
|
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
