Mutational analysis of NOG in esophageal atresia and tracheoesophageal fistula patients

Purpose The NOG protein is a secretory antagonist of bone morphogenetic proteins (BMPs). Nog−/− mouse embryos demonstrate proximal esophageal atresia (EA) and distal tracheoesophageal fistula (TEF) compatible with the most common configuration of EA/TEF observed in humans. Four microdeletions that span the NOG locus at 17q22 have been described in human patients having EA/TEF. We investigated the incidence of point mutations in the coding region of the NOG gene in human EA/TEF.