Germline mutation in the STK11 gene in a girl with an ovarian Sertoli cell tumour

Eur J Pediatr. 2007 Oct;166(10):1083-5. doi: 10.1007/s00431-006-0352-4. Epub 2006 Nov 24.


Introduction: An ovarian Sertoli cell tumour was detected in a 4-year-old girl with gonadotrophin-independent precocious puberty. Such gonadal tumours can be associated with Peutz-Jeghers syndrome, caused by mutations in the STK11 gene. We have therefore sequenced the STK11 gene.

Results: Mutation analysis revealed a nonsense mutation in exon 1 (c.130A>T;p.Lys44X) of the SKT11 gene, which resulted in a truncated, inactive protein. The mutation was heterozygous in patient's lymphocytes and almost homozygous in the tumour, indicating loss of heterozygosity.

Conclusion: This is the first report of a STK11 germline mutation in a girl with an ovarian Sertoli cell tumour. It remains to be shown whether this particular mutation predisposes the patient to the development of ovarian tumours.

Publication types

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

MeSH terms

  • Child, Preschool
  • Codon, Nonsense*
  • DNA Mutational Analysis
  • Female
  • Germ-Line Mutation
  • Gonadotropin-Releasing Hormone
  • Heterozygote
  • Humans
  • Ovarian Neoplasms / genetics*
  • Peutz-Jeghers Syndrome / genetics
  • Protein-Serine-Threonine Kinases / genetics*
  • Puberty, Precocious / genetics*
  • Sertoli Cell Tumor / genetics*


  • Codon, Nonsense
  • Gonadotropin-Releasing Hormone
  • STK11 protein, human
  • Protein-Serine-Threonine Kinases