Genetic Analysis of Congenital Diaphragmatic Disorders

The purpose of this study is to understand the genetic causes of congenital diaphragmatic
disorders (CDD), namely congenital diaphragmatic hernia (CDH), eventration and hiatal hernia.

Specifically, the investigators plan to:

1. Ascertain informative families and sporadic cases with congenital diaphragmatic
disorders and obtain appropriate phenotypic data and genetic material (peripheral blood
and/or diaphragm tissue sample).

2. Localize the gene(s) for CDD to specific chromosomal segments using linkage analysis,
and determine the role of somatic mutations in CDD.

3. Isolate and characterize genes involved in the pathogenesis of CDD.

4. Develop molecular markers that will facilitate accurate diagnosis (including prenatal
diagnosis) and permit correlation of phenotypic variation with specific mutations.

5. Compare RNA-sequencing from tissue samples of children without CDH to those children
with CDH.