Germline mutations of the LKB1 (STK11) gene in Peutz-Jeghers patients

Z J Wang, M Churchman, E Avizienyte, C McKeown, S Davies, D G Evans, A Ferguson, I Ellis, W H Xu, Z Y Yan, L A Aaltonen, I P Tomlinson

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Germline mutations of the LKB1 (STK11) serine/threonine kinase gene (chromosome 19p13.3) cause Peutz-Jeghers syndrome, which is characterised by hamartomas of the gastrointestinal tract and typical pigmentation. Peutz-Jeghers syndrome carries an overall risk of cancer that may be up to 20 times that of the general population. Here, we report the results of a screen for germline LKB1 mutations by DNA sequencing in 12 Peutz-Jeghers patients (three sporadic and nine familial cases). Mutations were found in seven (58%) cases, in exons 1, 2, 4, 6, and 9. Five of these mutations, two of which are identical, are predicted to lead to a truncated protein (three frameshifts, two nonsense changes). A further mutation is an in frame deletion of 6 bp, resulting in a deletion of lysine and asparagine; the second of these amino acids is conserved between species. The seventh mutation is a missense change in exon 2, converting lysine to arginine, affecting non-conserved amino acids and of uncertain functional significance. Despite the fact that Peutz-Jeghers syndrome is usually an early onset disease with characteristic clinical features, predictive and diagnostic testing for LKB1 mutations will be useful for selected patients in both familial and non-familial contexts.

Original languageEnglish
Pages (from-to)365-8
Number of pages4
JournalJournal of Medical Genetics
Issue number5
Publication statusPublished - May 1999


  • Adult
  • Base Sequence
  • DNA Mutational Analysis
  • Exons/genetics
  • Germ-Line Mutation
  • Humans
  • Peutz-Jeghers Syndrome/genetics
  • Protein-Serine-Threonine Kinases/genetics

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