Complete germline deletion of the STK11 gene in a family with Peutz-Jeghers syndrome

Eur J Hum Genet. 2004 May;12(5):415-8. doi: 10.1038/sj.ejhg.5201155.


Peutz-Jeghers syndrome (PJS, MIM175200) is an autosomal-dominant inherited disorder characterised by multiple gastrointestinal hamartomatous polyps, melanin spots of the oral mucosa and digits, and an increased risk for various neoplasms. The PJS results from germline alterations of the STK11/LKB1 tumour suppressor gene, located on 19p13.3, and encoding a serine/threonine kinase. The detection of STK11 germline mutations, in only 50-70% of PJS families, has suggested a genetic heterogeneity of the disease. We report the case of a family with typical features of PJS, including gastrointestinal hamartomatous, breast cancers and melanin spots of the oral mucosa. Quantitative multiplex PCR of short fluorescent fragments (QMPSF) of the 19p13 region allowed us to identify an approximately 250 kb heterozygous deletion removing entirely the STK11 locus. This report, which constitutes the first description of a complete germline deletion of STK11, shows that the presence of such large genomic deletions should be considered in PJS families without detectable point mutations of STK11.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • AMP-Activated Protein Kinase Kinases
  • Adolescent
  • Adult
  • Chromosomes, Human, Pair 19 / genetics
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Exons / genetics
  • Family Health
  • Female
  • Gene Deletion*
  • Germ-Line Mutation
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Microsatellite Repeats
  • Middle Aged
  • Neurofibromatosis 1 / genetics
  • Neurofibromatosis 1 / pathology
  • Peutz-Jeghers Syndrome / genetics*
  • Peutz-Jeghers Syndrome / pathology
  • Polymerase Chain Reaction / methods
  • Protein Serine-Threonine Kinases / genetics*


  • DNA
  • Protein Serine-Threonine Kinases
  • STK11 protein, human
  • AMP-Activated Protein Kinase Kinases