title: Germline mutation in the STK11 gene in a girl with an ovarian Sertoli cell tumour.
abstract: BACKGROUND
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Paediatrics, Virga Jesseziekenhuis, Stadsomvaart 11, 3500, Hasselt, Belgium. guy.massa@scarlet.be
authors.forename: Guy
authors.initials: G
authors.lastname: Massa
authors.forename: Nele
authors.initials: N
authors.lastname: Roggen
authors.forename: Marleen
authors.initials: M
authors.lastname: Renard
authors.forename: Johan J P
authors.initials: JJ
authors.lastname: Gille
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D002675:Child, Preschool; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005260:Female; D018095:Germ-Line Mutation; D007987:Gonadotropin-Releasing Hormone; D006579:Heterozygote; D006801:Humans; D010051:Ovarian Neoplasms / Q000235:genetics*; D010580:Peutz-Jeghers Syndrome / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D011629:Puberty, Precocious / Q000235:genetics*; D012707:Sertoli Cell Tumor / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D007987:Gonadotropin-Releasing Hormone; D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases