Advances in causative genes for Peutz-Jeghers syndrome

Abstract

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by mucocutaneous pigmentations and gastrointestinal polyposis associated with increased frequency of gastrointestinal and extraintestinal malignancies.The pathogenesis of PJS is unclear.The prevalence rate of PJS varies from 1/8 300 to 1/280 000.It is generally accepted that PJS is caused by germ-line mutations in the STK11 (LKB1) gene that encodes the serine/threonine kinase and acts as a tumor suppressor by regulating cell polarity and functions in a variety of malignant tumors.The tumor-suppressing mechanism of STK11 gene is still not entirely understood.Present studies show that there may exist other causative genes for PJS,mainly including suspected loci at 19q13.4,fragile histidine triad (FHIT) gene,brahma-related gene 1 (Brg1). Key words: Peutz-Jeghers syndrome ; Genes, STK11 ; Heredity