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

Georgina Caruana, John F Bertram

Research output: Contribution to journalArticleOtherpeer-review

15 Citations (Scopus)

Abstract

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
JournalNephrology
Volume20
Issue number5
DOIs
Publication statusPublished - 2015

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