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Electronic letters
Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome
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  1. N C M Hearle1,
  2. M F Rudd1,
  3. W Lim1,
  4. V Murday2,
  5. A G Lim3,
  6. R K Phillips4,
  7. P W Lee5,
  8. J O’Donohue6,
  9. P J Morrison7,
  10. A Norman8,
  11. S V Hodgson9,
  12. A Lucassen10,
  13. R S Houlston1
  1. 1Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
  2. 2Department of Medical Genetics, Yorkhill Hospital, Glasgow, UK
  3. 3Department of Gastroenterology, Epsom General Hospital, Epsom, Surrey, UK
  4. 4Polyposis Registry, St Mark’s Hospital, Harrow, Middlesex, UK
  5. 5Department of Surgery, Hull Royal Infirmary, Hull, East Yorkshire, UK
  6. 6Department of Gastroenterology, University Hospital Lewisham, London, UK
  7. 7Department of Medical Genetics, Belfast City Hospital, Belfast, UK
  8. 8Clinical Genetics Unit, Birmingham Women’s Hospital, Birmingham, UK
  9. 9Department of Clinical Genetics, St. Georges Hospital, London, UK
  10. 10Wessex Clinical Genetics Service, The Princess Anne Hospital, Southampton, UK
  1. Correspondence to:
 Richard S Houlston
 Section of Cancer Genetics, Brookes Lawley Building, Institute of Cancer Research, Sutton, Surrey, SM2 5NG, UK; Richard.Houlston{at}icr.ac.uk

Abstract

Background: Peutz-Jeghers syndrome (PJS) is a rare, autosomal dominant cancer predisposition syndrome characterised by oro-facial pigmentation and hamartomatous polyposis of the gastrointestinal tract. A causal germline mutation in STK11 can be identified in 30% to 80% of PJS patients.

Methods: Here we report the comprehensive mutational analysis of STK11 in 38 PJS probands applying conventional PCR based mutation detection methods and the recently introduced MLPA (multiplex ligation dependent probe amplification) technique developed for the identification of exonic deletions/duplications.

Results: Nineteen of 38 probands (50%) had detectable point mutations or small scale deletions/insertions and six probands (16%) had genomic deletions encompassing one or more STK11 exons.

Conclusions: These findings demonstrate that exonic STK11 deletions are a common cause of PJS and provide a strong rationale for conducting a primary screen for such mutations in patients.

  • MLPA, multiplex ligation dependent probe amplification
  • PJS, Peutz-Jeghers syndrome
  • MLPA
  • multiplex ligation dependent probe amplification
  • mutation
  • Peutz-Jeghers syndrome
  • STK11

https://doi.org/10.1136/jmg.2005.036830

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    Footnotes

    • This work was supported by grants from Cancer Research UK

    • Conflict of interest: none declared