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Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland.
- Source :
-
Molecular vision [Mol Vis] 2000 Dec 13; Vol. 6, pp. 261-4. Date of Electronic Publication: 2000 Dec 13. - Publication Year :
- 2000
-
Abstract
- Purpose: Macular corneal dystrophy (MCD) is subdivided into three immunophenotypes (MCD types I, IA and II). Recently, mutations in the carbohydrate sulfotransferase 6 gene (CHST6) were identified to cause MCD. The purpose of this study was to examine CHST6 for mutations in Icelandic patients with MCD type I.<br />Methods: Genomic DNA was extracted from leukocytes in the peripheral blood and the coding region of CHST6 was examined for mutations by polymerase chain reaction (PCR) and direct sequencing.<br />Results: Mutation analysis of the CHST6 coding region identified three different mutations in sixteen Icelandic patients with MCD type I. Eleven patients with MCD type I were homozygous for a C1075T mutation. One patient with MCD type I was found to be a compound heterozygous for C1075T and G1189C mutations. One family with MCD type I contained a 10 base pair insertion (ATGCTGTGCG) between nucleotides 707 and 708. In this family, two affected siblings had a homozygous insertion while both their affected mother and their affected maternal aunt had a heterozygous insertion and a heterozygous C1075T mutation.<br />Conclusions: Three different nucleotide changes were identified in the coding region of CHST6 in sixteen Icelandic patients with MCD type I. All three of these alterations are predicted to affect the translated protein and each of them corresponded to a particular disease haplotype that we had previously reported in this population.
- Subjects :
- Base Sequence
Cornea pathology
Corneal Dystrophies, Hereditary enzymology
Corneal Dystrophies, Hereditary epidemiology
DNA Mutational Analysis
DNA Primers chemistry
Female
Humans
Iceland epidemiology
Male
Molecular Sequence Data
Pedigree
Polymerase Chain Reaction
Carbohydrate Sulfotransferases
Cornea enzymology
Corneal Dystrophies, Hereditary genetics
Mutation
Sulfotransferases genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1090-0535
- Volume :
- 6
- Database :
- MEDLINE
- Journal :
- Molecular vision
- Publication Type :
- Academic Journal
- Accession number :
- 11139648