Maternal environment interacts with modifier genes to influence progression of nephrotic syndrome

J Ratelade, TA Lavin, AO Muda… - Journal of the …, 2008 - journals.lww.com
Mutations in the NPHS2 gene, which encodes podocin, are responsible for some cases of
sporadic and familial autosomal recessive steroid-resistant nephrotic syndrome. Inter-and
intrafamilial variability in the progression of renal disease among patients bearing NPHS2
mutations suggests a potential role for modifier genes. Using a mouse model in which the
podocin gene is constitutively inactivated, we sought to identify genetic determinants of the
development and progression of renal disease as a result of the nephrotic syndrome. We …