Advances in genome sequencing and genetic manipulation techniques over the last decade have helped identify numerous single-gene causes of early-onset kidney diseases and risk alleles for complex, polygenic traits. Subsequent studies regarding the underlying disease mechanisms will help lead to personal genetic diagnoses and unique therapeutic interventions in the future.
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References
Sadowski, C. E. et al. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. J. Am. Soc. Nephrol. 26, 1279–1289 (2014).
Gee, H. Y. et al. ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling. J. Clin. Invest. 123, 3243–3253 (2013).
Heeringa, S. F. et al. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J. Clin. Invest. 121, 2013–2024 (2011).
Chaki, M. et al. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell 150, 533–548 (2012).
Zhou, W. et al. FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair. Nat. Genet. 44, 910–915 (2012).
Bukanov, N. O. et al. Long-lasting arrest of murine polycystic kidney disease with CDK inhibitor roscovitine. Nature 444, 949–952 (2006).
Tory, K. et al. Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome. Nat. Genet. 46, 299–304 (2014).
Kottgen, A. et al. Multiple loci associated with indices of renal function and chronic kidney disease. Nat. Genet. 41, 712–717 (2009).
Genovese, G. et al. Association of trypanolytic ApoL1 variants with kidney disease in African Americans. Science 329, 841–845 (2010).
Freedman, B. I. et al. The apolipoprotein L1 (APOL1) gene and nondiabetic nephropathy in African Americans. J. Am. Soc. Nephrol. 21, 1422–1426 (2010).
Acknowledgements
F.H. has received grant support from the NIH (grant numbers DK068306, DK076683, DK88767), and from the Howard Hughes Medical Institute.
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Hildebrandt, F. Genetic dissection of kidney disorders. Nat Rev Nephrol 11, 635–636 (2015). https://doi.org/10.1038/nrneph.2015.148
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DOI: https://doi.org/10.1038/nrneph.2015.148
