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Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation
  1. P Liskova1,2,3,
  2. B Veraitch1,
  3. K Jirsova3,
  4. M Filipec3,4,
  5. A Neuwirth3,
  6. N D Ebenezer1,
  7. P G Hysi5,6,
  8. A J Hardcastle1,
  9. S J Tuft7,
  10. S S Bhattacharya1
  1. 1
    Division of Molecular Genetics, Institute of Ophthalmology, UCL, London, UK
  2. 2
    Department of Ophthalmology, General Teaching Hospital and 1st Medical Faculty of Charles University, Prague, Czech Republic
  3. 3
    Laboratory of the Biology and Pathology of the Eye, Institute of Inherited Metabolic Diseases and Ocular Tissue Bank, General Teaching Hospital and 1st Medical Faculty of Charles University, Prague, Czech Republic
  4. 4
    Eye Clinic Lexum, Prague, Czech Republic
  5. 5
    Paediatric Epidemiology and Biostatistics, Institute of Child Health, UCL, London, UK
  6. 6
    Department of Anesthesia and Perioperative Care, UCSF, CA, USA
  7. 7
    Moorfields Eye Hospital NHS Foundation Trust, London, UK
  1. P Liskova, Division of Molecular Genetics, Institute of Ophthalmology, University College London, 11–43 Bath Street, London EC1V 9EL, UK; p.liskova{at}


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.

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  • Competing interests: None.

  • Funding: This work was supported by the Special Trustees of Moorfields Eye Hospital and by the Ministry of Education of the Czech Republic (MSM 0021620806-VZ-206100-11).

  • Ethics approval: The study was approved by the Ethics Committee of the General Teaching Hospital and Charles University, Prague, and conformed to the Declaration of Helsinki.