Steve Seltzsam, Chunyan Wang, Bixia Zheng, Nina Mann, Dervla M Connaughton, Chen-Han Wilfred Wu, Sophia Schneider, Luca Schierbaum, Franziska Kause, Caroline M Kolvenbach, Makiko Nakayama, Rufeng Dai, Isabel Ottlewski, Ronen Schneider, Konstantin Deutsch, Florian Buerger, Verena Klämbt, Youying Mao, Ana C Onuchic-Whitford, Camille Nicolas-Frank, Kirollos Yousef, Dalia Pantel, Ethan W Lai, Daanya Salmanullah, Amar J Majmundar, Stuart B Bauer, Nancy M Rodig, Michael J G Somers, Avram Z Traum, Deborah R Stein, Ankana Daga, Michelle A Baum, Ghaleb H Daouk, Velibor Tasic, Hazem S Awad, Loai A Eid, Sherif El Desoky, Mohammed Shalaby, Jameela A Kari, Hanan M Fathy, Neveen A Soliman, Shrikant M Mane, Shirlee Shril, Michael A Ferguson, Friedhelm Hildebrandt
PURPOSE: Congenital anomalies of the kidneys and urinary tract (CAKUT) constitute the leading cause of chronic kidney disease in children. In total, 174 monogenic causes of isolated or syndromic CAKUT are known. However, syndromic features may be overlooked when the initial clinical diagnosis of CAKUT is made. We hypothesized that the yield of a molecular genetic diagnosis by exome sequencing (ES) can be increased by applying reverse phenotyping, by re-examining the case for signs/symptoms of the suspected clinical syndrome that results from the genetic variant detected by ES...
February 2022: Genetics in Medicine: Official Journal of the American College of Medical Genetics