A Case of Peutz-Jeghers Syndrome in which a Germline Mutation of STK11 Was Identified by Direct Sequencing

Abstract

Peutz-Jeghers syndrome is an autosomal dominantly inherited disease with an increased risk for various malignancies. Recently, the STK11/LKB1 gene was identified as a causative gene for this syndrome, therefore, the genetic tesing is now available. We experienced a 38-year-old female patient with this syndrome. Under the informed consent, we performed the genetic testing of STK11/LKB1 gene on this patient, and detected a novel germline mutation on splice acceptor site of exon 8 of this gene. The offspring of this patient was also tested and was shown to harbour the same mutation. The usefulness of the genetic diagnosis for Peutz-Jeghers syndrome was discussed.