Genetic link between renal birth defects and congenital heart disease

Jovenal T. San Agustin, Nikolai Klena, Kristi Granath, Ashok Panigrahy, Eileen Stewart, William Devine, Lara Strittmatter, Julie A. Jonassen, Xiaoqin Liu, Cecilia W. Lo and Gregory J. Pazour ()
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Jovenal T. San Agustin: Program in Molecular Medicine, University of Massachusetts Medical School
Nikolai Klena: University of Pittsburgh
Kristi Granath: University of Pittsburgh
Ashok Panigrahy: Children’s Hospital of Pittsburgh, University of Pittsburgh Medical Center, Children’s Hospital
Eileen Stewart: Children’s Hospital of Pittsburgh, University of Pittsburgh Medical Center, Children’s Hospital
William Devine: Children’s Hospital of Pittsburgh, University of Pittsburgh Medical Center, Children’s Hospital
Lara Strittmatter: Electron Microscopy Core, University of Massachusetts Medical School
Julie A. Jonassen: University of Massachusetts Medical School
Xiaoqin Liu: University of Pittsburgh
Cecilia W. Lo: University of Pittsburgh
Gregory J. Pazour: Program in Molecular Medicine, University of Massachusetts Medical School

Nature Communications, 2016, vol. 7, issue 1, 1-11

Abstract: Abstract 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.

Date: 2016
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DOI: 10.1038/ncomms11103

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