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Selective screening of patients with hereditary retinal degeneration to identify the target group for gene therapy with voretigene neparvovec
https://doi.org/10.25557/2073-7998.2022.10.51-55
Abstract
RPE65-associated retinopathies have received tremendous attention due to successful gene therapy. The current study is aimed at assessing the frequency of RPE65-dependent forms of hereditary retinal degeneration in the Russian Federation, as well as characterizing changes in the RPE65 gene in Russian patients. Of 189 unrelated patients with a referral diagnosis of RP or LCA, 11 patients with IRD with biallelic pathogenic variants in the RPE65 gene were identified, which accounted for 5.8% in the study sample. The most frequent mutation, c.370C>T (p.Arg124*), was found on five chromosomes. Two previously undescribed variants c.1024T>C (p.Tyr342His), c.1340T>C (p.Leu447Pro), classified as probably pathogenic, were identified. The significant contribution of RPE65-dependent forms of IRD to the Russian Federation and the possibility of gene therapy for these patients, as well as the absence of major mutations and hot exons in the RPE65 gene, proves the need for molecular genetic diagnosis of patients with various forms of IRD using the targeted next-generation sequencing (NGS) method.
About the Authors
A. A. Stepanova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
V. V. Kadyshev
Research Centre for Medical Genetics
Russian Federation
Russian Federation
O. A. Shchagina
Research Centre for Medical Genetics
Russian Federation
Russian Federation
A. V. Polyakov
Research Centre for Medical Genetics
Russian Federation
Russian Federation
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Review
For citations:
Stepanova A.A., Kadyshev V.V., Shchagina O.A., Polyakov A.V. Selective screening of patients with hereditary retinal degeneration to identify the target group for gene therapy with voretigene neparvovec. Medical Genetics. 2022;21(10):51-55. (In Russ.) https://doi.org/10.25557/2073-7998.2022.10.51-55
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