Mutations in NUP160 Are Implicated in Steroid-Resistant Nephrotic Syndrome.

ABSTRACT:

Background

Studies have identified mutations in >50 genes that can lead to monogenic steroid-resistant nephrotic syndrome (SRNS). The NUP160 gene, which encodes one of the protein components of the nuclear pore complex nucleoporin 160 kD (Nup160), is expressed in both human and mouse kidney cells. Knockdown of NUP160 impairs mouse podocytes in cell culture. Recently, siblings with SRNS and proteinuria in a nonconsanguineous family were found to carry compound-heterozygous mutations in NUP160.

Methods

We identified NUP160 mutations by whole-exome and Sanger sequencing of genomic DNA from a young girl with familial SRNS and FSGS who did not carry mutations in other genes known to be associated with SRNS. We performed in vivo functional valida

SUBMITTER: Zhao F 

PROVIDER: S-EPMC6493979 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature