Congenital anomalies of the kidney and urinary tract genetics in mice and men

Georgina Caruana, John F Bertram

Research output: Contribution to journalArticleOtherpeer-review

20 Citations (Scopus)


The most common cause of paediatric end-stage kidney disease results from congenital anomalies of the kidney and urinary tract (CAKUT). Genetic manipulation in mice has provided insight into the developmental events that give rise to the broad spectrum of malformations associated with CAKUT. Despite the increase in the number of identified CAKUT-causing genes, the underlying genetic cause for the majority of patients with CAKUT remains unknown. In this mini-review, we provide an overview of the genetic causes of CAKUT based on current mouse mutant models, as well as next-generation sequencing approaches in humans that are helping to bridge the gaps in our understanding.
Original languageEnglish
Pages (from-to)309 - 311
Number of pages3
Issue number5
Publication statusPublished - 2015

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