Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation
Aims: To characterise the role of the carbohydrate sulfotransferase gene (CHST6) in macular corneal dystrophy (MCD) in Czech patients.Methods: The coding region of the CHST6 gene was directly sequenced in 10 affected and five unaffected members from eight apparently unrelated MCD families. The type...
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2008
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ftucl:oai:eprints.ucl.ac.uk.OAI2:113206 2023-05-15T16:50:52+02:00 Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation Liskova, P Veraitch, B Jirsova, K Filipec, M Neuwirth, A Ebenezer, ND Hysi, PG Hardcastle, AJ Tuft, SJ Bhattacharya, SS 2008-02 http://discovery.ucl.ac.uk/113206/ unknown B M J PUBLISHING GROUP BRIT J OPHTHALMOL , 92 (2) 265 - 267. (2008) SULFOTRANSFERASE GENE DISTINCT MUTATIONS ICELAND Article 2008 ftucl 2016-01-15T02:49:55Z Aims: To characterise the role of the carbohydrate sulfotransferase gene (CHST6) in macular corneal dystrophy (MCD) in Czech patients.Methods: The coding region of the CHST6 gene was directly sequenced in 10 affected and five unaffected members from eight apparently unrelated MCD families. The type of MCD was determined by enzyme-linked immunosorbent assay of antigenic keratan sulfate (KS) in serum and by immunohistochemical staining of corneas with monoclonal anti-KS antibody.Results: The following changes in the coding sequence of the CHST6 gene were observed; homozygous mutation of c.1A > T (p.M1?); homozygous mutation c.599T > G (p.L200R); compound heterozygosity for c.599T > G and c.614G > A (p.R205Q); compound heterozygosity for c.494G > A (p.C165Y) and c. 599T > G; heterozygous c.599T > G mutation and no other change in the coding sequence. One proband exhibited no changes. The pathogenic mutation c.599T > G (p.L200R) was in allelic association with the c.484C > G (p.R162G) polymorphism. Nine patients from seven families were of MCD type I including the subtype IA.Conclusion: Four different CHST6 missense mutations, of which p.C165Y is novel, were identified. Allelic association of the c.[484C > G; 599T > G] in six probands out of eight, as well as occurrence of this particular allele in a heterozygous state in one healthy control individual, supports a common founder effect for MCD in the Czech Republic. Article in Journal/Newspaper Iceland University College London: UCL Discovery |
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Open Polar |
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University College London: UCL Discovery |
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ftucl |
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unknown |
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SULFOTRANSFERASE GENE DISTINCT MUTATIONS ICELAND |
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SULFOTRANSFERASE GENE DISTINCT MUTATIONS ICELAND Liskova, P Veraitch, B Jirsova, K Filipec, M Neuwirth, A Ebenezer, ND Hysi, PG Hardcastle, AJ Tuft, SJ Bhattacharya, SS Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation |
topic_facet |
SULFOTRANSFERASE GENE DISTINCT MUTATIONS ICELAND |
description |
Aims: To characterise the role of the carbohydrate sulfotransferase gene (CHST6) in macular corneal dystrophy (MCD) in Czech patients.Methods: The coding region of the CHST6 gene was directly sequenced in 10 affected and five unaffected members from eight apparently unrelated MCD families. The type of MCD was determined by enzyme-linked immunosorbent assay of antigenic keratan sulfate (KS) in serum and by immunohistochemical staining of corneas with monoclonal anti-KS antibody.Results: The following changes in the coding sequence of the CHST6 gene were observed; homozygous mutation of c.1A > T (p.M1?); homozygous mutation c.599T > G (p.L200R); compound heterozygosity for c.599T > G and c.614G > A (p.R205Q); compound heterozygosity for c.494G > A (p.C165Y) and c. 599T > G; heterozygous c.599T > G mutation and no other change in the coding sequence. One proband exhibited no changes. The pathogenic mutation c.599T > G (p.L200R) was in allelic association with the c.484C > G (p.R162G) polymorphism. Nine patients from seven families were of MCD type I including the subtype IA.Conclusion: Four different CHST6 missense mutations, of which p.C165Y is novel, were identified. Allelic association of the c.[484C > G; 599T > G] in six probands out of eight, as well as occurrence of this particular allele in a heterozygous state in one healthy control individual, supports a common founder effect for MCD in the Czech Republic. |
format |
Article in Journal/Newspaper |
author |
Liskova, P Veraitch, B Jirsova, K Filipec, M Neuwirth, A Ebenezer, ND Hysi, PG Hardcastle, AJ Tuft, SJ Bhattacharya, SS |
author_facet |
Liskova, P Veraitch, B Jirsova, K Filipec, M Neuwirth, A Ebenezer, ND Hysi, PG Hardcastle, AJ Tuft, SJ Bhattacharya, SS |
author_sort |
Liskova, P |
title |
Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation |
title_short |
Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation |
title_full |
Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation |
title_fullStr |
Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation |
title_full_unstemmed |
Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation |
title_sort |
sequencing of the chst6 gene in czech macular corneal dystrophy patients supports the evidence of a founder mutation |
publisher |
B M J PUBLISHING GROUP |
publishDate |
2008 |
url |
http://discovery.ucl.ac.uk/113206/ |
genre |
Iceland |
genre_facet |
Iceland |
op_source |
BRIT J OPHTHALMOL , 92 (2) 265 - 267. (2008) |
_version_ |
1766040983288414208 |