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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
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Authors Affiliations
  1. 1. Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
  3. 3. Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  4. 4. Medical Biotechnology Research Center, Ashkezar Branch, Islamic Azad University, Ashkezar, Yazd, Iran
  5. 5. Parseh Pathobiology and Genetics Center, Tehran, Iran

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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