Genotype-phenotypic correlation of Peutz-Jeghers syndrome on the example of a series of clinical cases

Introduction: Peutz-Jeghers syndrome (PEUTZ-JEGHERS SYNDROME; PJS; OMIM#175200) is hereditary tumor and characterized by the occurrence of hamartomatous polyps gastrointestinal tract, melanocytic pigmentation skin mucous membranes, as well a high predisposition to malignant tumors various locations. Despite fact that clinical features PJS are currently understood, nature variability in phenotypic manifestations disease has not been fully described. Aims: determine patients with depending on type mutation STK11 gene. Patients methods: genetic data 3 aged 21, 28 39 years signs presented. All underwent medical counseling molecular diagnostics gene using NGS MLPA methods. Results: large deletions ex2-8 ex1 were revealed two patients, one patient showed splice site variant c.921-1G > A. The identified previously described international databases. When evaluating features, most severe picture was an extended deletion exons 2-8, number surgical procedures history. However, this case, became less age, contrast single exon deletion. No cancers detected patients. Conclusion: test made it possible confirm diagnosis PJS, based work out personalized plan for follow-up. Evaluation genotype-phenotype correlations will be development unified register carriers.