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Simone Sanna-Cherchi, … , Gian Marco Ghiggeri, Ali G. Gharavi
Published January 2, 2018
Citation Information: J Clin Invest. 2018;128(1):4-15. https://doi.org/10.1172/JCI95300.
Citation Information: J Clin Invest. 2018;128(1):4-15. https://doi.org/10.1172/JCI95300.
Abstract
The clinical spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) encompasses a common birth defect in humans that has significant impact on long-term patient survival. Overall, data indicate that approximately 20% of patients may have a genetic disorder that is usually not detected based on standard clinical evaluation, implicating many different mutational mechanisms and pathogenic pathways. In particular, 10% to 15% of CAKUT patients harbor an unsuspected genomic disorder that increases risk of neurocognitive impairment and whose early recognition can impact clinical care. The emergence of high-throughput genomic technologies is expected to provide insight into the common and rare genetic determinants of diseases and offer opportunities for early diagnosis with genetic testing.
Authors
Simone Sanna-Cherchi, Rik Westland, Gian Marco Ghiggeri, Ali G. Gharavi
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Citation information
Citations to this article (79)
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Transcription Factor 21 Is Required for Branching Morphogenesis and Regulates the Gdnf-Axis in Kidney Development
S Ide, G Finer, Y Maezawa, T Onay, T Souma, R Scott, K Ide, Y Akimoto, C Li, M Ye, X Zhao, Y Baba, T Minamizuka, J Jin, M Takemoto, K Yokote, SE Quaggin |
Journal of the American Society of Nephrology : JASN | 2018 |
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Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish
ML Reilly, MF Stokman, V Magry, C Jeanpierre, M Alves, M Paydar, J Hellinga, M Delous, D Pouly, M Failler, J Martinovic, L Loeuillet, B Leroy, J Tantau, J Roume, CY Gregory-Evans, X Shan, I Filges, JS Allingham, BH Kwok, S Saunier, RH Giles, A Benmerah |
Human Molecular Genetics | 2018 |
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