ArticleChildren (Basel, Switzerland)2026
Whole Exome Sequencing Reveals Promising Genes Associated with Congenital Renal Parenchymal Anomalies in Greek Children.
Article in Children (Basel, Switzerland), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundCongenital anomalies of the kidney and urinary tract (CAKUT) comprise a broad spectrum of malformations and constitute the leading cause of end-stage kidney disease (ESKD) in childhood. Despite extensive research, a monogenic cause is identified in only ~10% of cases, while variable penetrance and expressivity suggest a more complex disease mechanism. Epigenetic and environmental factors have also been implicated, further complicating efforts to elucidate the etiology of these anomalies.
methodsWhole exome sequencing (WES) was performed in 47 individuals with isolated, non-syndromic congenital renal parenchymal anomalies.
resultsVariants in four genes (
conclusionsOur findings support WES as a valuable tool for identifying clinically relevant variants and expanding the genetic landscape of CAKUT.
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