Article
Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.
Human genetics - 1 Aug 2015
Hwang Daw-Yang, Kohl Stefan, Fan Xueping, Vivante Asaf, Chan Stefanie, Dworschak Gabriel C, Schulz Julian, van Eerde Albertien M, Hilger Alina C, Gee Heon Yung, Pennimpede Tracie, Herrmann Bernhard G, van de Hoek Glenn, Renkema Kirsten Y, Schell Christoph, Huber Tobias B, Reutter Heiko M, Soliman Neveen A, Stajic Natasa, Bogdanovic Radovan, Kehinde Elijah O, Lifton Richard P, Tasic Velibor, Lu Weining, Hildebrandt Friedhelm
Abstract excerpt
Congenital anomalies of the kidney and urinary tract (CAKUT) account for 40-50% of chronic kidney disease that manifests in the first two decades of life. Thus far, 31 monogenic causes of isolated CAKUT have been described, explaining ~12% of cases. To identify additional CAKUT-causing genes, we performed whole-exome sequencing followed by a genetic burden analysis in 26 genetically unsolved families with CAKUT....
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