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Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation
  1. Petra Liskova (baziliska{at},
  2. Brotati Veraitch,
  3. Katerina Jirsova,
  4. Martin Filipec,
  5. Ales Neuwirth,
  6. Neil Ebenezer,
  7. Pirro Hysi,
  8. Alison Hardcastle,
  9. Stephen Tuft,
  10. Shomi Bhattacharya
  1. University College London, United Kingdom
  2. University College London, United Kingdom
  3. Charles University, Czech Republic
  4. Charles University, Czech Republic
  5. Charles University, Czech Republic
  6. University College London, United Kingdom
  7. University College London, United Kingdom
  8. University College London, United Kingdom
  9. Moorfields Eye Hospital, United Kingdom
  10. University College London, United Kingdom


    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 ten 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.

    • CHST6
    • founder effect
    • keratan sulfate
    • macular corneal dystrophy
    • novel mutation

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