PEX6 Mutations in Peroxisomal Biogenesis Disorders: An Usher Syndrome Mimic.

ABSTRACT:

Purpose

Peroxisomal biogenesis disorders (PBDs) represent a spectrum of conditions that result in vision loss, sensorineural hearing loss, neurologic dysfunction, and other abnormalities resulting from aberrant peroxisomal function caused by mutations in PEX genes. With no treatments currently available, we sought to investigate the disease mechanism in a patient with a PBD caused by defects in PEX6 and to probe whether overexpression of PEX6 could restore peroxisome function and potentially offer therapeutic benefit.

Design

Laboratory-based study.

Participants

A 12-year-old boy sought treatment with hearing loss and retinopathy. After negative results in an Usher syndrome panel, targeted genetic testing revealed compound heterozygous mutations in

SUBMITTER: Benson MD 

PROVIDER: S-EPMC9559095 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature