Must Peutz-Jeghers syndrome patients have the gene mutation? A case report and review of the literature.

Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disease, which is characterized by mucocutaneous pigmentation and multiple gastrointestinal hamartoma polyps. The germline mutation of gene on chromosome 19p13.3 is considered to be the hereditary cause of PJS. However, must a patient with PJS have the gene mutation? We here report a case of a male patient who had typical manifestations of PJS and a definite family history, but did not have gene mutation. By means of high-throughput sequencing technology, only mutations in gene (c.6662T > C: p.Met2221Thr) and gene (c.3488A > T: p.Glu1163Val) were detected. The missense mutations in and gene may lead to abnormalities in structure and function of their expression products, and may result in the occurrence of PJS. This study suggests that some other genetic disorders may cause PJS besides gene mutation.