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Rpe65 and Retinal Dystrophy: Report of New and Recurrent Mutations Publisher Pubmed



Safari S1 ; Zareabdollahi D2 ; Bushehri A2 ; Safari MR3 ; Dehghani A4 ; Tahmasebi Z5 ; Khorram Khorshid HR2 ; Ghadami M1
Authors

Source: Journal of Gene Medicine Published:2020


Abstract

Bachground: Leber congenital amaurosis (LCA) is a severe and congenital or early onset form of inherited retinitis pigmentosa (RP). To date, approximately 25 genes have been introduced in relation to LCA. In this regard, retinal pigment epithelium-specific 65 kDa (RPE65) is a well-known gene mutation that plays a role in the pathogenesis of 5–10% of LCA cases. Methos: Two individuals fromseparate families were subjected to ehole exome sequencing (WES). Causativevariants were searched further assessed using Sanger sequencing. Results: Here, two families with mutations in the RPE65 gene show severe and early onset LCA, as expected. In addition to the characterization of the phenotype, by reporting a new mutation (c.1451-1G>A), we further expand the mutation spectrum of RPE65. Likewise, as an interesting aspect of our study, we report on a previously reported RP-linked mutation associated with severe early onset LCA (c.T200G:p.L67R). Conclusions: Considering this variant in different populations, it is likely that it represents a hotspot and affects the function of the coded protein. The variable expressivity of the phenotype can be assumed by the presence of the modifier allele(s) as a result of a different genetic background or the effect of different environments on phenotype expression. © 2020 John Wiley & Sons, Ltd.
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