Program in Molecular Medicine; Electron Microscopy Core; Department of Microbiology and Physiological Systems
Developmental Biology | Genetics | Medical Genetics | Molecular Genetics
Structural birth defects in the kidney and urinary tract are observed in 0.5% of live births and are a major cause of end-stage renal disease, but their genetic aetiology is not well understood. Here we analyse 135 lines of mice identified in large-scale mouse mutagenesis screen and show that 29% of mutations causing congenital heart disease (CHD) also cause renal anomalies. The renal anomalies included duplex and multiplex kidneys, renal agenesis, hydronephrosis and cystic kidney disease. To assess the clinical relevance of these findings, we examined patients with CHD and observed a 30% co-occurrence of renal anomalies of a similar spectrum. Together, these findings demonstrate a common shared genetic aetiology for CHD and renal anomalies, indicating that CHD patients are at increased risk for complications from renal anomalies. This collection of mutant mouse models provides a resource for further studies to elucidate the developmental link between renal anomalies and CHD.
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DOI of Published Version
Nat Commun. 2016 Mar 22;7:11103. doi: 10.1038/ncomms11103. Link to article on publisher's site
San Agustin, Jovenal T.; Klena, Nikolai; Granath, Kristi; Panigrahy, Ashok; Stewart, Eileen; Devine, William; Strittmatter, Lara; Jonassen, Julie A.; Liu, Xiaoqin; Lo, Cecilia W.; and Pazour, Gregory J., "Genetic link between renal birth defects and congenital heart disease" (2016). Program in Molecular Medicine Publications and Presentations. 44.
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.