The Finnish type of congenital nephrotic syndrome occurs due to gene mutations affecting the following protein
Correct Answer: Nephrin
Description: The first relevant gene to be identified, NPHS1, maps to chromosome 19q13 and encodes the protein nephrin. 'Nephrin' is a key component of the slit diaphragm, the zipper like structure between podocyte foot process that might control glomerular permeability. several mutations of NHPS1 gene have been identified that give rise to congenital nephrotic syndrome of FINNISH TYPE, producing a minimal change disease-like glomerulonephropathy with extensive foot process effacement. Ref: Pathologic basis of disease Robbins 8th edition, pg no:927
Category:
Pathology
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