Article
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2022
Seltzsam Steve, Wang Chunyan, Zheng Bixia, Mann Nina, Connaughton Dervla M, Wu Chen-Han Wilfred, Schneider Sophia, Schierbaum Luca, Kause Franziska, Kolvenbach Caroline M, Nakayama Makiko, Dai Rufeng, Ottlewski Isabel, Schneider Ronen, Deutsch Konstantin, Buerger Florian, Klämbt Verena, Mao Youying, Onuchic-Whitford Ana C, Nicolas-Frank Camille, Yousef Kirollos, Pantel Dalia, Lai Ethan W, Salmanullah Daanya, Majmundar Amar J, Bauer Stuart B, Rodig Nancy M, Somers Michael J G, Traum Avram Z, Stein Deborah R, Daga Ankana, Baum Michelle A, Daouk Ghaleb H, Tasic Velibor, Awad Hazem S, Eid Loai A, El Desoky Sherif, Shalaby Mohammed, Kari Jameela A, Fathy Hanan M, Soliman Neveen A, Mane Shrikant M, Shril Shirlee, Ferguson Michael A, Hildebrandt Friedhelm
Abstract excerpt
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...
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