Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.

ABSTRACT:

Background

Pathogenic variants in PEX-genes can affect peroxisome assembly and function and cause Zellweger spectrum disorders (ZSDs), characterized by variable phenotypes in terms of disease severity, age of onset and clinical presentations. So far, defects in at least 15 PEX-genes have been implicated in Mendelian diseases, but in some of the ultra-rare ZSD subtypes genotype-phenotype correlations and disease mechanisms remain elusive.

Methods

We report five families carrying biallelic variants in PEX13. The identified variants were initially evaluated by using a combination of computational approaches. Immunofluorescence and complementation studies on patient-derived fibroblasts were performed in two patients to investigate the cellular impact of the identified mutations.

SUBMITTER: Borgia P 

PROVIDER: S-EPMC9295491 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature