The Genetics of Congenital Diaphragmatic Hernia

Congenital diaphragmatic hernia (CDH) is a common birth defect with a high mortality and morbidity. A clear understanding of the pathogenesis of CDH is critical for determining prognosis and planning treatment, but to date, information on the genetic etiology of both nonsyndromic and syndromic CDH is limited. This paper summarizes the current knowledge concerning the genes, syndromes, and chromosome aberrations associated with CDH in humans and in animal model systems. Mutations in several different genes have been described in syndromic CDH, but there is only one mutation that has been reported in non-syndromic CDH to date. However, animal models suggest that genes involved in cell migration, myogenesis, and connective tissue formation are critical to normal diaphragm formation, and these data provide a starting point for the search for other genes involved in the pathogenesis of CDH.