Rare heterozygous variants in paediatric steroid resistant nephrotic syndrome - a population-based analysis of their significance.

ABSTRACT: Genetic testing in nephrotic syndrome may identify heterozygous predicted-pathogenic variants (HPPVs) in autosomal recessive (AR) genes that are known to cause disease in the homozygous or compound heterozygous state. In such cases, it can be difficult to define the variant's true significance and questions remain about whether a second pathogenic variant has been missed during analysis or whether the variant is an incidental finding. There are now known to be over 70 genes associated with nephrotic syndrome, the majority inherited as an AR trait. Knowledge of whether such HPPVs occur with equal frequency in patients compared to the general population would assist interpretation of their significance. Exome sequencing was performed on 187 Steroid-Resistant Nephrotic Syndrome (SRNS) paediat

SUBMITTER: Platt CJ 

PROVIDER: S-EPMC11316802 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature