Familial juvenile polyposis syndrome with a novel SMAD4 germline mutation

Juvenile polyposis syndrome (JPS) is a dominantly inherited disorder characterized by the development of numerous juvenile polyps (JPs) of the gastrointestinal tract, and associated with a mutation of the SMAD4 or BMPR1A gene. Here, we report a mother?daughter case of familial JPS. A 29-year-old female patient with severe iron deficiency anemia and hypoproteinemia had numerous polyps in the stomach and a few polyps in the ileum and colon that were detected endoscopically. Biopsy specimens from the gastric polyps were diagnosed as JPs. The patient underwent a laparoscopy-assisted total gastrectomy, and her anemia and hypoproteinemia improved. Her mother also had multiple JPs in the stomach, duodenum, jejunum, and colon. We then diagnosed them as having familial JPS. Moreover, germline mutation analysis of the 2 patients presented a novel pathogenic SMAD4 variant.