Deletion within SMAD4 Gene Cause JPS Resulting in Total Abdominal Colectomy with Ileorectal Anastomosis

Juvenile polyposis syndrome (JPS) is an autosomal dominant disorder characterised by developed frequent benign gastrointestinal polyps from normal tissue that may transformed to malignancy. Here, we describe a patient with frequent bloody mucous diarrhea associated with lower abdominal pain and multiple variable sized polyps all over different segments of the colon. Molecular DNA sequencing revealed presence of a de nova heterozygous c.1245_1248CAGA mutation that located within the highly conserved MH2 domain of the SMAD4 gene. Familial molecular analysis showed that both parents are not carrier for any mutation. Therefore, such molecular study is important in confirming the diagnosis of JPS and identifying patient who barbering SMAD4 mutation and at high risk in developing malignancy. Thus, appropriate surveillance management care may provide