Novel variations in NPHS1 gene in children of South Indian population and its association with primary nephrotic syndrome

Abstract

Mutations in NPHS1 can lead to disruption of the filtration barrier and cause proteinuria in nephrotic syndrome (NS). The aim of the study was to evaluate NPHS1 mutations, its susceptibility to the disease, and their association in children with steroid-resistant NS; mutation frequency of 9% was observed in patients with steroid-resistant NS, of which, six mutations and two single-nucleotide polymorphisms observed in the study population were found to be novel.

MAGI-2 orchestrates the localization of backbone proteins in the slit diaphragm of podocytes

“…5,[8][9][10] Many genetic analyses have also revealed the importance of these gene mutations in the development of nephrotic syndrome in humans. [11][12][13][14][15][16][17][18][19][20] Thus, we were compelled to elucidate how these backbone proteins are physiologically localized and preserved in podocytes. Actually, scaffold proteins such as podocin, CD2-associated protein (CD2AP), and Zonula occludens-1 (ZO-1) are reported to be involved in stabilizing these backbone proteins.…”