dbGaP Protocol: Genetic Variants Associated With Pentalogy of Cantrell

National Institutes of Health (NIH)

Status: Completed

Conditions: Pentalogy of Cantrell

Study type: Observational

Funder types: NIH

Identifiers

NCT02430376

999915111

15-H-N111

Details and patient eligibility

About

Background:

Pentalogy of Cantrell (POC) is a syndrome that involves many heart abnormalities as well as large defects in the chest and abdominal wall. This often results in the heart and other organs being present outside the body at birth. Surgeons have learned to replace them and repair the heart. Researchers want to find possible gene changes that cause POC. To do this, they want to study data from the Pediatric Cardiovascular Genetics Consortium (PCGC) Cohort. The PCGC collects data and DNA samples from people with heart diseases and their families

Objectives:

• To find gene mutations in people with Pentalogy of Cantrell (POC) or other related syndromes.

Eligibility:

• PCGC data and DNA samples that are open to study by the public.

Design:

• Researchers will study the data from the PCGC.
• The gene testing being done in this study was consented to in the original studies. No new consent or waiver request is required.
• The study will last 1 year.

Full description

The purpose of this protocol is to identify genetic mutations in patients with the diagnosis of Pentalogy of Cantrell (POC) or other related syndromes. We will be looking for any exomic/genomic mutations that could be associated with this syndrome. We have produced a mouse model with a mutation in the gene encoding nonmuscle myosin IIB which exhibit problems with ventral wall closure, including extrathoracic location of the heart (ectopia cordis) and defects in the abdominal wall with protrusion of the guts and liver. These mice have severe defects in both the heart and brain, and resemble humans born with POC, who manifest these same abnormalities, and so we take a special interest in mutations in nonmuscle myosin proteins.

Enrollment: 3,280 patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

• We will analyze data from subjects from congenital cardiovascular disease databases.