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.
Simone Sanna-Cherchi, Rik Westland, Gian Marco Ghiggeri, Ali G. Gharavi
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Update on Genetic Conditions Affecting the Skin and the Kidneys
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Frontiers in Pediatrics | 2018 |
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Nature Genetics | 2018 |
Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia
TR Nixon, A Richards, LK Towns, G Fuller, S Abbs, P Alexander, A McNinch, RN Sandford, MP Snead |
European Journal of Human Genetics | 2018 |
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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