Recessive Mutations in <i>SYNPO2</i> as a Candidate of Monogenic Nephrotic Syndrome.

ABSTRACT:

Introduction

Most of the approximately 60 genes that if mutated cause steroid-resistant nephrotic syndrome (SRNS) are highly expressed in the glomerular podocyte, rendering SRNS a "podocytopathy."

Methods

We performed whole-exome sequencing (WES) in 1200 nephrotic syndrome (NS) patients.

Results

We discovered homozygous truncating and homozygous missense mutation in SYNPO2 (synaptopodin-2) (p.Lys1124∗ and p.Ala1134Thr) in 2 patients with childhood-onset NS. We found SYNPO2 expression in both podocytes and mesangial cells; however, notably, immunofluorescence staining of adult human and rat kidney cryosections indicated that SYNPO2 is localized mainly in mesangial cells. Subcellular localization studies reveal that in these cells SYNPO2 partially co-localizes wi

SUBMITTER: Mao Y 

PROVIDER: S-EPMC7879128 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature