The University of Southampton
University of Southampton Institutional Repository

Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome

Record type: Article

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.
Abbreviations: MLPA, multiplex ligation dependent probe amplification; PJS, Peutz-Jeghers syndrome

Full text not available from this repository.

Citation

Hearle, N.C.M., Rudd, M.F., Lim, W., Murday, V., Lim, A.G., Phillips, R.K., Lee, P.W., O'Donohue, J., Morrison, P.J., Norman, A., Hodgson, S.V., Lucassen, A. and Houlston, R.S. (2006) Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome Journal of Medical Genetics, 43, (4), e15-[4pp]. (doi:10.1136/jmg.2005.036830).

More information

Published date: April 2006
Keywords: kinase, patient, amplification, germline mutation, genomic deletions, time, gene, mutation, mutations, identification, cancer-risk, cancer, deletions, women, polyposis, predisposition, peutz-jeghers syndrome

Identifiers

Local EPrints ID: 62786
URI: http://eprints.soton.ac.uk/id/eprint/62786
ISSN: 0022-2593
PURE UUID: c5ac84f4-940f-48bd-9b8b-255a2c7ecd90

Catalogue record

Date deposited: 11 Sep 2008
Last modified: 17 Jul 2017 14:20

Export record

Altmetrics

Contributors

Author: N.C.M. Hearle
Author: M.F. Rudd
Author: W. Lim
Author: V. Murday
Author: A.G. Lim
Author: R.K. Phillips
Author: P.W. Lee
Author: J. O'Donohue
Author: P.J. Morrison
Author: A. Norman
Author: S.V. Hodgson
Author: A. Lucassen
Author: R.S. Houlston

University divisions


Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×