dbGaP Protocol: Genetic Variants Associated With Pentalogy of Cantrell
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 3,280
- 试验地点
- 1
- 主要终点
- To identify novel genetic mutations associated with the disease Pentalogy of Cantrell
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Retrospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- 未提供
排除标准
- 未提供
结局指标
主要结局
To identify novel genetic mutations associated with the disease Pentalogy of Cantrell
时间窗: Ongoing
次要结局
- To identify the molecular mechanisms underlying the congenital disease Pentalogy of Cantrell, to aid in the development of novel therapeutic strategies.(Ongoing)