Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome.
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This study found that children with 16p11.2 proximal deletions have a significantly higher rate of kidney and urinary tract birth defects (about 16–25%) compared to the general population, and identified the TBX6 gene within the deleted region as a likely cause, which may help doctors know to screen 16p11.2 deletion carriers for kidney problems early.