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Eur J Med Genet. 2012 Dec;55(12):688-9. doi: 10.1016/j.ejmg.2012.06.003. Epub 2012 Jul 15.

Should SIX2 be routinely tested in patients with isolated congenital abnormalities of kidneys and/or urinary tract (CAKUT)?

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Nephrology and Transplantation Department, University Hospital of Toulouse, Toulouse, France.


Mutations of the transcription factor SIX2 have been associated with renal hypodysplasia, renal cysts or vesicoureteric reflux. Here, we aimed at confirming the role and the prevalence of SIX2 mutations in a large cohort of 125 individuals with various congenital abnormalities of kidneys and urinary tract. Despite extensive sequencing of all exons and intron-exon boundaries, we failed to detect any SIX2 variation suggesting that SIX2 molecular analysis should not yet be recommended in clinical practice but restricted to research programs.

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