Steroid resistant nephritic syndrome is caused by mutation in which of the following?: (A) Nephrin, (B) Alpha-actinin-4, (C) Podocin, (D) Transient Receptor Potential 6
Answer is C. A mutation in the Nephrin (NPHS1) gene causes a hereditary form of congenital nephrotic syndrome with minimal change glomerular morphology whereas mutations in NPHS2 encoding for podocin results in steroid resistant nephrotic syndrome. Ref: Robbins 7Th Ed Page 981, 983.