Genetics and developmental biology of oesophageal atresia and tracheo-oesophageal fistula: lessons from mice relevant for paediatric surgeons

Byline: J. F. Felix (1), R. Keijzer (1,3), M. F. Dooren (1,3), R. J. Rottier (3), D. Tibboel (1,2) Keywords: Foregut; Oesophageal atresia; Tracheo-oesophageal fistula; Genes; Embryology Abstract: Oesophageal atresia and tracheo-oesophageal fistula are relatively frequently occurring foregut malformations of which the aetiology and pathogenesis are poorly understood. Recent results of molecular genetic studies, in particular the use of single and compound mutant mice, have yielded a tremendous increase in the understanding of the molecular mechanisms involved in normal and abnormal foregut morphogenesis. In the introduction of this paper, we review the very early stages of normal and abnormal embryology of the foregut derivatives and the separation of the foregut into a ventral respiratory part and a dorsal digestive part. After that, we describe the genes that have been demonstrated to play an important role in these processes. Author Affiliation: (1) Department of Paediatric Surgery, Erasmus MC--Sophia Children's Hospital, Rotterdam, The Netherlands (2) Paediatric Surgical Intensive Care Unit, Erasmus MC--Sophia Children's Hospital, P.O. Box 2060, 3000 CB, Rotterdam, The Netherlands (3) Department of Cell Biology and Genetics, Erasmus MC, Rotterdam, The Netherlands Article History: Registration Date: 21/09/2004 Accepted Date: 16/01/2004 Online Date: 28/10/2004