Congenital Diaphragmatic Disorders, Congenital Diaphragmatic Eventration, Congenital Diaphragmatic Hernia, Congenital Hiatal Hernia
Conditions
Brief summary
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.
Interventions
None listed
Sponsors
University of Utah
Study design
Observational model
OTHER
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
Inclusion criteria
* Diagnosed with a congenital diaphragmatic disorder
Exclusion criteria
* none
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Genes implicated in CDD can be identified by linkage analysis | 5 years | Using the Utah Population Database, genes implicated in CDD can be identified by linkage analysis |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Develop molecular markers that will facilitate accurate diagnosis of CDD and CDH. | 5 years | Develop molecular markers that will facilitate accurate diagnosis (including prenatal diagnosis) and permit correlation of phenotypic variation with specific mutations by localizing the gene(s) for CDH to specific chromosomal segments using linkage analysis in familial cases. In sporadic cases, characterize the role of somatic mutations in CDDs by using a candidate gene approach, and comparative genomic hybridization (CGH) arrays. |
Countries
United States
Outcome results
None listed