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RPE65 and retinal dystrophy: Report of new and recurrent mutations

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Published:29th Feb 2020
Author: Safari S, Zare-Abdollahi D, Bushehri A, Safari MR, Dehghani A, Tahmasebi Z et al.
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Ref.:J Gene Med. 2020 Mar;22(3):e3154.
DOI:10.1002/jgm.3154
RPE65 and retinal dystrophy: Report of new and recurrent mutations


Background:
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.


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