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Analysis of published PKD1 gene sequence variants

Nature Genetics volume 39, pages 427–428 (2007)Cite this article

To the Editor:

We retrospectively reviewed published variants in the PKD1 genes and detected errors in 39 of 771 variants (5.06% (95% c.i., 3.62–6.85)). All arose from human processing mistakes. As peer-reviewed publication is no safeguard for those considering the clinical significance of an unknown variant, we suggest that reporting of new variants for the proposed Human Variome Project should employ both automated reporting and expert scrutiny.

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Figure 1: Errors were grouped into three categories: misassignment, miscounting and typographical.

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Acknowledgements

The members of the ADPKD Gene Variant Consortium have been critical in this collaborative effort of verifying the accuracy of the peer-reviewed PKD1 gene variants included in this retrospective audit. This work was supported by funding from the PKD Foundation. We are grateful to J. Crowhurst and H. Scott for their careful scrutiny of the manuscript. The encouragement of R. Cotton in the preparation of this report is appreciated.

Author information

Authors and Affiliations

  1. The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, 3050, Victoria, Australia

    Alexander M Gout

  2. Department of Medical Biology, The University of Melbourne, Parkville, 3010, Victoria, Australia

    Alexander M Gout

  3. School of Medicine and Pharmacology, The University of Western Australia, Nedlands, 6009, Australia

    Alexander M Gout & David Ravine

  4. Western Australian Institute for Medical Research, Centre for Medical Research, The University of Western Australia, Nedlands, 6009, Australia

    David Ravine

  5. Mayo Clinic College of Medicine, Rochester, New York, USA

    Peter C Harris & Sandro Rossetti

  6. Leiden University Medical Centre, Leiden, The Netherlands

    Dorien Peters & Martijn Breuning

  7. Fox Chase Cancer Center, Philadelphia, Pennsylvania, USA

    Elizabeth Petri Henske

  8. Department of Health and Environmental Sciences, Kyoto University, Japan

    Akio Koizumi & Sumiko Inoue

  9. Kyorin University School of Health Sciences, Japan

    Yoshiko Shimizu

  10. Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand

    Wanna Thongnoppakhun & Pa-thai Yenchitsomanus

  11. Department of Biological Sciences, University of Cyprus, Lefkosia, Cyprus

    Constantinos Deltas

  12. Department of Medical Genetics, Cambridge Institute of Medical Research, Addenbrooke's Hospital, Cambridge, UK

    Richard Sandford

  13. Nephrology Department, Fundació Puigvert, Barcelona, Spain

    Roser Torra

  14. Department of Mother & Child - Genetics, University of Verona School of Medicine, Verona, Italy

    Alberto E Turco

  15. Medical Genetics Unit, St. George's Hospital Medical School, London, UK

    Steve Jeffery

  16. Génétique médicale et développement, INSERM, Marseille, France

    Michel Fontes & Stéphane Burtey

  17. Section of Nephrology, Yale University School of Medicine, New Haven, Connecticut, USA

    Stefan Somlo & Laszlo M Furu

  18. Free University Medical Center Department of Internal Medicine, Amsterdam, The Netherlands

    Yvo M Smulders

  19. Laboratoire de génétique moléculaire, CHU Brest, France

    Bernard Mercier & Claude Ferec

  20. Division of Nephrology, Department of Medicine, University of Toronto, Canada

    York Pei

  21. Western Australian Institute for Medical Research, Centre for Medical Research, The University of Western Australia, Perth, Australia

    Luba Kalaydjieva

  22. Institute of Human Genetics, University of Muenster, Germany

    Nadja Bogdanova

  23. Centre for Human Genetics, Edith Cowan University, Joondalup, Australia

    Marie McCluskey

  24. Department of Internal Medicine, Eulji Medical College, Seoul National University, Seoul, Korea

    Lee Jung Geon

  25. Deptartment of Clinical Genetics, Rotterdam, The Netherlands

    C H Wouters

  26. Department of Nephrology & Department of Biology and Medical Genetics, Charles University, Prague, Czech Republic

    Jana Reiterova & Jitka Stekrová

  27. Departments of Endocrinology and Molecular Genetics, Hospital Ramo, Madrid, Spain

    Jose L San Millan & Gianluca Aguiari

  28. Dipartimento di Biochimica e Biologia Molecolare, Universita degli Studi, Ferrara, Italy

    Laura Del Senno

Authors
  1. Alexander M Gout
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  2. David Ravine
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Consortia

the ADPKD Gene Variant Consortium

  • Peter C Harris
  • , Sandro Rossetti
  • , Dorien Peters
  • , Martijn Breuning
  • , Elizabeth Petri Henske
  • , Akio Koizumi
  • , Sumiko Inoue
  • , Yoshiko Shimizu
  • , Wanna Thongnoppakhun
  • , Pa-thai Yenchitsomanus
  • , Constantinos Deltas
  • , Richard Sandford
  • , Roser Torra
  • , Alberto E Turco
  • , Steve Jeffery
  • , Michel Fontes
  • , Stefan Somlo
  • , Laszlo M Furu
  • , Yvo M Smulders
  • , Bernard Mercier
  • , Claude Ferec
  • , Stéphane Burtey
  • , York Pei
  • , Luba Kalaydjieva
  • , Nadja Bogdanova
  • , Marie McCluskey
  • , Lee Jung Geon
  • , C H Wouters
  • , Jana Reiterova
  • , Jitka Stekrová
  • , Jose L San Millan
  • , Gianluca Aguiari
  •  & Laura Del Senno

Corresponding author

Correspondence to David Ravine.

Ethics declarations

Competing interests

The authors declare no competing financial interests.

Additional information

Corresponding authors of publications describing variants within the PKD1 gene

Supplementary information

Supplementary Table 1

Source references. (PDF 41 kb)

Supplementary Table 2

Erroneous variant reports. (PDF 82 kb)

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Gout, A., the ADPKD Gene Variant Consortium. & Ravine, D. Analysis of published PKD1 gene sequence variants. Nat Genet 39, 427–428 (2007). https://doi.org/10.1038/ng0407-427

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  • DOI: https://doi.org/10.1038/ng0407-427

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