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Published on: July 18, 2014
Congenital Heart Defects and Ciliopathies Associated With Renal Phenotypes
George C Gabriel1, Gregory J Pazour2, Cecilia W Lo1
1Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, United States.
Insights
Cilia-related mutations are a key genetic cause of congenital heart disease (CHD) and often co-occur with kidney anomalies. Early renal screening in CHD patients can improve outcomes.
Area of Science:
- Developmental Biology
- Genetics
- Nephrology
Background:
- Congenital heart disease (CHD) is a common birth defect.
- Cilia play crucial roles in development, including kidney and heart formation.
- Cilia-related mutations are increasingly recognized as a significant genetic factor in CHD.
Purpose of the Study:
- To investigate the genetic link between cilia, CHD, and renal anomalies.
- To determine the prevalence of renal anomalies in CHD patients.
- To highlight the potential benefit of early renal screening in CHD.
Main Methods:
- Analysis of a large-scale mouse forward genetic screen for mutations causing CHD and renal anomalies.
- Identification and categorization of cilia-related mutations.
- Corroboration of findings with clinical studies on CHD patients.
Main Results:
- 42% of mutations causing both CHD and renal anomalies were cilia-related.
- Mutations involved cilia transition zone or inversin compartment components.
- Clinical studies confirmed 20-30% of CHD patients exhibit renal anomalies.
Conclusions:
- Cilia dysfunction is a significant contributor to the co-occurrence of CHD and congenital anomalies of the kidney and urinary tract (CAKUT).
- The high comorbidity suggests a shared genetic or developmental pathway.
- Early screening for renal anomalies in CHD patients is recommended for improved diagnosis and intervention.
Abstract:
Congenital heart disease (CHD) is one of the most common birth defects, and recent studies indicate cilia-related mutations play a central role in the genetic etiology of CHD. As cilia are also known to have important roles in kidney development and disease, it is not surprising that renal anomalies were found to be enriched among CHD mutant mice recovered in a large-scale mouse forward genetic screen. Indeed 42% of mutations identified to cause both CHD and renal anomalies were cilia-related. Many of these cilia mutations comprise cilia transition zone or inversin compartment components, consistent with the known role of these cilia proteins in a wide variety of ciliopathies. The high prevalence of CHD with congenital anomalies of the kidney and urinary tract (CAKUT) observed in mice was also corroborated with clinical studies that showed 20-30% of CHD patients have renal anomalies. Together these findings suggest CHD patients may benefit from early screening for renal anomalies to allow early diagnosis and intervention to improve outcome for this vulnerable patient population.
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