Purchase this article with an account.
Mohamed F. El-Ashry, Mai M. Abd El-Aziz, Simon Wilkins, Michael E. Cheetham, Susan E. Wilkie, Alison J. Hardcastle, Stephanie Halford, Ahmed Y. Bayoumi, Linda A. Ficker, Stephen Tuft, Shomi S. Bhattacharya, Neil D. Ebenezer; Identification of Novel Mutations in the Carbohydrate Sulfotransferase Gene (CHST6) Causing Macular Corneal Dystrophy. Invest. Ophthalmol. Vis. Sci. 2002;43(2):377-382.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
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
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
This PDF is available to Subscribers Only