Mutation in XPO5 causes adult-onset autosomal dominant familial focal segmental glomerulosclerosis.

ABSTRACT:

Background

Focal and segmental glomerulosclerosis (FSGS) is a histological pathology that characterizes a wide spectrum of diseases. Many genes associated with FSGS have been studied previously, but there are still some FSGS families reported in the literature without the identification of known gene mutations. The aim of this study was to investigate the new genetic cause of adult-onset FSGS.

Methods

This study included 40 FSGS families, 77 sporadic FSGS cases, 157 non-FSGS chronic kidney disease (CKD) families and 195 healthy controls for analyses. Whole-exome sequencing (WES) and Sanger sequencing were performed on probands and family members of all recruited families and sporadic FSGS cases.

Results

Using WES, we have identified a novel heterozygous missense varia

SUBMITTER: Hussain HMJ 

PROVIDER: S-EPMC9655905 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature