Genetic screening for Peutz-Jeghers syndrome.
Peutz-Jeghers syndrome is clinically characterized by mucocutaneous melanocytic pigmentation, intestinal hamartomatous polyposis and a significantly increased risk of developing cancer. Mutations in the serine/threonine kinase (STK-)11 gene, also designated LKB1, are found in approximately 60% of cases of Peutz-Jeghers syndrome. There is evidence that genetic heterogeneity exists and gene(s) that have not yet been discovered may be responsible for the disease. Since most mutations in Peutz-Jeghers syndrome are null alleles and are dispersed throughout the entire STK11/LKB1 gene, the mutation screening strategies that combine approaches at both the DNA and RNA level are favored. Based upon the identification of novel mutational mechanisms, the impact of RNA-based screening for germinal STK11/LKB1 mutations in Peutz-Jeghers syndrome are specifically discussed.
Ballhausen
Wolfgang G
WG
Department of Internal Medicine, Martin-Luther-University, Halle-Wittenberg, Germany. wolfgang.ballhausen@medizin.uni-halle.de
Günther
Klaus
K
D000091162:AMP-Activated Protein Kinase Kinases; D000818:Animals; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D010580:Peutz-Jeghers Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012307:Risk Factors
D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases