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Mutation screening of the KCNN3 gene reveals a rare frameshift mutation

Molecular Psychiatry volume 6, pages 259–260 (2001)Cite this article

SIR – Chandy and colleagues1 reported association between schizophrenia and moderately large alleles of a CAG repeat in the KCNN3 gene encoding hKCa3, a calcium-activated potassium channel. Although others have reported similar findings, most have not replicated this finding.2 However, recently, Brzustowicz and colleagues3 have reported linkage between schizophrenia (maximum heterogeneity lod score of 6.5) and chromosome 1q21–22. As KCNN3 also maps to 1q21,4 it can be considered a positional candidate gene for schizophrenia.

To allow further investigation of KCNN3, we have screened its genomic sequence for other sequence variants using denaturing high performance liquid chromatography (DHPLC).5 We found two synonymous polymorphisms and a frameshift mutation in exon 1 that is predicted to result in a truncated protein. We tested this variant for association in a sample of 184 individuals of British Caucasian origin diagnosed with DSM-IV schizophrenia, and 184 matched blood donor controls. Furthermore, we also genotyped 93 affected individuals from the 22 pedigrees in the study that yielded strong evidence for linkage to 1q21–22.3 No further chromosome carrying this mutation were found.

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Authors and Affiliations

  1. Division of Psychological Medicine, University of Wales College of Medicine, Cardiff, CF14 4XN, UK

    T Bowen, N Williams, N Norton, G Spurlock, H Williams, B Hoogendoorn, S Zammit, G Jones, R D Sanders, L A Jones, G McCarthy, S Jones, A G Cardno, M J Owen & M C O'Donovan

  2. Institut fuer Humangenetik und Anthropologie, University of Freiburg, Germany

    O H Wittekindt & D J Morris-Rosendahl

  3. Department of Genetics, Rutgers University, Piscataway, 08854, NJ, USA

    L Brzustowicz

  4. Queen Street Division, Genetics Section, Schizophrenia Research Program, Centre for Addiction and Mental Health, Toronto, M6J 1H4, Canada

    A Bassett

Authors
  1. T Bowen
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  2. N Williams
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  3. N Norton
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  4. G Spurlock
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  5. O H Wittekindt
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  6. D J Morris-Rosendahl
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  7. H Williams
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  8. L Brzustowicz
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  9. B Hoogendoorn
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  10. S Zammit
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  11. G Jones
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  12. R D Sanders
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  13. L A Jones
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  14. G McCarthy
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  15. S Jones
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  16. A Bassett
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  17. A G Cardno
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  18. M J Owen
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  19. M C O'Donovan
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Corresponding author

Correspondence to M C O'Donovan.

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Bowen, T., Williams, N., Norton, N. et al. Mutation screening of the KCNN3 gene reveals a rare frameshift mutation. Mol Psychiatry 6, 259–260 (2001). https://doi.org/10.1038/sj.mp.4000128

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