NOP53 and imperforate anus: GLTSCR2, is expressed at high levels in pancreas and heart, is a tumor suppressor gene and a direct regulator of PTEN. Mutations of PTEN have been previously identified in a patient affected with VACTERL (Vertebral anomalies, Anal atresia, Cardiac defects, Tracheoesophageal fistula and/or Esophageal atresia, Renal & Radial anomalies and Limb defects) [22] which has commonalities with CRS [27].