BMPR1A and juvenile polyposis syndrome: Patient IV:76 had a splice-site variant c.230 + 2T > C (class 4), II:59 had a truncating variant, c.441delT, Phe147Leufs*18 (class 5) and the last patient (II:58) had a probable pathogenic (class 4) missense mutation, c.1409 C > T, p.Met470Thr in BMPR1A. This missense mutation has previously been found in a patient with a juvenile polyposis phenotype and around 300 polyps throughout the entire gastrointestinal tract [15].