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Exome Reanalysis Identifies Novel Candidate Genes Associated with Congenital Anomalies of the Kidney and Urinary Tract in China

2026-02-09 genetic and genomic medicine Title + abstract only
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Congenital anomalies of the kidney and urinary tract (CAKUT) are the primary cause of pediatric kidney failure, yet the genetic etiologies remain elusive for most affected individuals. Reanalysis of trio exome sequencing data from 80 Chinese CAKUT patients identified 32 rare, predicted deleterious variants. Replication in unrelated families from a national multicenter database prioritized four novel candidate genes--DOCK11, MIB1, TENM2, and TNS1. These candidates are involved in both well-charac...

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