Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy.

ABSTRACT:

Importance

Next-generation sequencing can detect variants of uncertain significance (VUSs), for some of which gene therapy would not be advantageous. Therefore, the pathogenicity of compound heterozygous or homozygous variants should be confirmed before bilateral vitrectomy and administration of voretigene neparvovec-rzyl.

Objective

To describe an in vitro mutagenesis assay for assessing the pathogenicity of variants in the RPE65 gene.

Design, setting, and participants

This case series was conducted at 2 tertiary referral centers. Clinical history, imaging, and electrophysiologic testing results were reviewed from September 5, 2008, to December 31, 2019. Participants were 4 pediatric patients with Leber congenital amaurosis who were evaluated for or met the inclusion

SUBMITTER: Yang U 

PROVIDER: S-EPMC6777234 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature