Article
Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2025
Merz Lea Maria, Kolvenbach Caroline M, Wang Chunyan, Mertens Nils David, Seltzsam Steve, Mansour Bshara, Zheng Bixia, Schneider Sophia, Schierbaum Luca, Hölzel Selina, Salmanullah Daanya, Pantel Dalia, Kalkar Gina, Connaughton Dervla M, Mann Nina, Wu Chen-Han Wilfred, Kause Franziska, Nakayama Makiko, Dai Rufeng, Schneider Ronen, Buerger Florian, Nicolas-Frank Camille, Yousef Kirollos, Lemberg Katharina, Saida Ken, Yu Seyoung, Elmubarak Izzeldin, Franken Gijs A C, Lomjansook Kraisoon, Braun Alina, Bauer Stuart B, Rodig Nancy M, Somers Michael J G, Traum Avram Z, Stein Deborah R, Daga Ankana, Baum Michelle A, Daouk Ghaleb H, Awad Hazem S, Eid Loai A, El Desoky Sherif, Shalaby Mohammed A, Kari Jameela A, Ooda Said, Fathy Hanan M, Soliman Neveen A, Nabhan Marwa, Abdelrahman Safaa, Hilger Alina C, Mane Shrikant M, Ferguson Michael A, Tasic Velibor, Shril Shirlee, Hildebrandt Friedhelm
Abstract excerpt
PURPOSE: Congenital anomalies of the kidney and urinary tract (CAKUT) encompass heterogenous malformations arising from defective nephrogenesis. To date, approximately 50 monogenic genes are known to cause CAKUT if mutated. Recent studies show the impact of de novo variants in genetic disease etiology. Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families. METHODS:...
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