Year in Review

Genetics of kidney diseases in 2017: Unveiling the genetic architecture of kidney disease

Technical advances in genome sequencing and association studies have yielded critical insights into the genetic architecture of kidney diseases. Here, I summarize four key studies from 2017 that deciphered the genetic basis of known and novel diseases and provided insights into the mechanisms of glomerular, developmental defects and manifestations of kidney disorders.

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    et al. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. J. Am. Soc. Nephrol. 26, 1279–1289 (2015).

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    et al. Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency. J. Clin. Invest. 127, 912–928 (2017).

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    et al. Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome. J. Clin. Invest. 127, 942–953 (2017).

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    et al. Genetic drivers of kidney defects in the DiGeorge syndrome. N. Engl. J. Med. 376, 742–754 (2017).

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    et al. Mutations in GANAB, encoding the glucosidase IIα subunit, cause autosomal-dominant polycystic kidney and liver disease. Am. J. Hum. Genet. 98, 1193–1207 (2016).

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    et al. Polycystic kidney disease without an apparent family history. J. Am. Soc. Nephrol. 28, 2768–2776 (2017).

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    et al. Genomic imbalances in pediatric patients with chronic kidney disease. J. Clin. Invest. 125, 2171–2178 (2015).

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    et al. Genomic disorders and neurocognitive impairment in pediatric CKD. J. Am. Soc. Nephrol. 28, 2303–2309 (2017).

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Author information


  1. Institute of Physiology, University of Zurich, Winterthurerstrasse 190, CH-8057 Zürich, Switzerland.

    • Olivier Devuyst


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Competing interests

The author declares no competing financial interests.

Corresponding author

Correspondence to Olivier Devuyst.