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:
- 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).
- Localize the gene(s) for CDD to specific chromosomal segments using linkage analysis, and determine the role of somatic mutations in CDD.
- Isolate and characterize genes involved in the pathogenesis of CDD.
- Develop molecular markers that will facilitate accurate diagnosis (including prenatal diagnosis) and permit correlation of phenotypic variation with specific mutations.
Congenital Diaphragmatic Hernia
Congenital Diaphragmatic Eventration
Congenital Hiatal Hernia
Congenital Diaphragmatic Disorders
|Official Title:||Genetic Analysis of Congenital Diaphragmatic Disorders|
- Genes implicated in CDD can be identified by linkage analysis [ Time Frame: 5 years ] [ Designated as safety issue: No ]Using the Utah Population Database, genes implicated in CDD can be identified by linkage analysis
- Develop molecular markers that will facilitate accurate diagnosis of CDD and CDH. [ Time Frame: 5 years ] [ Designated as safety issue: No ]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.
Biospecimen Retention: Samples With DNA
Blood or buccal swabs
|Study Start Date:||October 2010|
|Estimated Study Completion Date:||October 2016|
|Estimated Primary Completion Date:||October 2015 (Final data collection date for primary outcome measure)|
|Contact: Shawna Baker, RNfirstname.lastname@example.org|
|United States, Utah|
|Salt Lake City, Utah, United States, 84132|
|Contact: Luca Brunelli, MD 801-581-7052 email@example.com|
|Principal Investigator: Luca Brunelli, MD|
|Principal Investigator:||Luca Brunelli, MD||University of Utah|