A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis.

ABSTRACT:

Introduction

Monoallelic variants in the ALG5 gene encoding asparagine-linked glycosylation protein 5 homolog (ALG5) have been recently shown to disrupt polycystin-1 (PC1) maturation and trafficking via underglycosylation, causing an autosomal dominant polycystic kidney disease-like (ADPKD-like) phenotype and interstitial fibrosis. In this report, we present clinical, genetic, histopathologic, and protein structure and functional correlates of a new ALG5 variant, p.R79W, that we identified in 2 distant genetically related Irish families displaying an atypical late-onset ADPKD phenotype combined with tubulointerstitial damage.

Methods

Whole exome and targeted sequencing were used for segregation analysis of available relatives. This was followed by immunohistochemistry

SUBMITTER: Elhassan EAE 

PROVIDER: S-EPMC11284371 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature