Genetic Factors in the Etiology of Congenital Diaphragmatic Hernia

摘要: textabstractCongenital Diaphragmatic Hernia (CDH) is a relatively common birth defect in which diaphragm formation associated with lung hypoplasia and pulmonary hypertension. CDH has significant mortality of 50-80%, depending on the presence anomalies severity abnormalities. The etiology not known, but it believed that both environmental genetic factors contribute to its development. We have collected clinical data approximately 400 patients. DNA, cell lines karyotypes are available ~250 To identify chromosomal regions genes play role we used complementary molecular (cyto)genetic techniques Two identified critical region chromosome 15q26 larger 11q23-qter. We also high-resolution techniques, such as oligonucleotide-based array-CGH, combined quantitative PCR, proven fast reliable method screen for cryptic children non-isolated can be other congenital and/or mental retardation well. The commonly deleted or duplicated their candidate patients almost all retinoic acid metabolism / neural crest migration. Therefore propose general discussion pathways necessary normal diaphragm- lungdevelopment disruption at any point these mechanisms lead development diaphragmatic hernia.