CNTNAP2 and juvenile polyposis syndrome: Eleven genes were found in 2 samples (Fig. 4a), including TSC2, a regulatory gene involved in the MTOR signaling pathway45; BMPR1A, a receptor serine/threonine kinase, deletion of which may be associated with Juvenile polyposis syndrome, a rare autosomal dominant disorder characterized by multiple gastrointestinal juvenile polyps and an increased risk of colorectal cancer46; and two genes, CCSER1 and CNTNAP2 (on the last two rows of Fig. 4a), residing in fragile sites47.