Focal segmental glomerulosclerosis and proteinuria associated with Myo1E mutations: novel variants and histological phenotype analysis.

ABSTRACT:

Background

Pathogenic mutations in the non-muscle single-headed myosin, myosin 1E (Myo1e), are a rare cause of pediatric focal segmental glomerulosclerosis (FSGS). These mutations are biallelic, to date only reported as homozygous variants in consanguineous families. Myo1e regulates the actin cytoskeleton dynamics and cell adhesion, which are especially important for podocyte functions.

Methods

DNA and RNA sequencing were used to identify novel MYO1E variants associated with FSGS. We studied the effects of these variants on the localization of Myo1e in kidney sections. We then analyzed the clinical and histological observations of all known pathogenic MYO1E variants.

Results

We identified a patient compound heterozygote for two novel variants in MYO1E and a patient ho

SUBMITTER: Krendel M 

PROVIDER: S-EPMC10506584 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature