Recessive variants in MYO1C as a potential novel cause of proteinuric kidney disease.

ABSTRACT:

Background

Steroid-resistant nephrotic syndrome is the second leading cause of chronic kidney disease among patients < 25 years of age. Through exome sequencing, identification of > 65 monogenic causes has revealed insights into disease mechanisms of nephrotic syndrome (NS).

Methods

To elucidate novel monogenic causes of NS, we combined homozygosity mapping with exome sequencing in a worldwide cohort of 1649 pediatric patients with NS.

Results

We identified homozygous missense variants in MYO1C in two unrelated children with NS (c.292C > T, p.R98W; c.2273 A > T, p.K758M). We evaluated publicly available kidney single-cell RNA sequencing datasets and found MYO1C to be predominantly expressed in podocytes. We then performed structural modeling for the identified variant

SUBMITTER: Elmubarak I 

PROVIDER: S-EPMC11883449 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature