Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families

Anne Marie Westerman, Mark M. Entius, Patrick P C Boor, Rita Koole, Ellen De Baar, G. Johan A Offerhaus, Jan Lubinski, Dick Lindhout, Dicky J J Halley, Felix W M De Rooij, J. H Paul Wilson

Research output: Contribution to journalArticlepeer-review

76 Scopus citations


The Peutz-Jeghers syndrome (PJS) is a rare hereditary disorder in which gastrointestinal hamartomatous polyposis, mucocutaneous pigmentation, and a predisposition for developing cancer are transmitted in an autosomal dominant fashion. The recently identified LKB1/STK11 gene located at chromosome 19p13.3 is mutated in a number of PJS pedigrees. We performed mutation analysis in 19, predominantly Dutch, PJS families. In 12 of these families, we identified LKB1/STK11 mutations, none of which has been described before. These 12 novel LKB1/STK11 mutations consist of one nonsense mutation, three frameshift deletions, three frameshift insertions, two acceptor splice site mutations, and three missense mutations. In addition, we detected four polymorphisms in LKB1/STK11. In the remaining seven PJS families, we found no apparent abnormalities of the LKB1/STK11 gene, which could reflect the existence of locus heterogeneity in PJS. None of the mutations occurred in more than one family, and a number were demonstrated to have arisen de novo. The diverse array of mutations found, the apparent high mutation rate, as well as the existence of a possible second PJS locus, renders diagnostic or predictive genetic testing in individual patients difficult, although future identification of additional mutations or even gene (s) will help in increasing the yield of direct mutation analysis.

Original languageEnglish (US)
Pages (from-to)476-481
Number of pages6
JournalHuman Mutation
Issue number6
StatePublished - 1999
Externally publishedYes


  • Cancer
  • Gastrointestinal polyposis
  • LKB1
  • Mucocutaneous pigmentation
  • Mutation
  • Peutz-Jeghers syndrome
  • Serine threonine kinase
  • STK11

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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