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Targeted Next Generation Sequencing Reveals Genetic Defects Underlying Inherited Retinal Disease in Iranian Families Pubmed



Tayebi N1 ; Akinrinade O1 ; Khan MI2, 3 ; Hejazifar A4 ; Dehghani A5 ; Cremers FPM2, 3 ; Akhlaghi M5
Authors

Source: Molecular Vision Published:2019


Abstract

Purpose: Inherited retinal diseases (IRDs) are clinically and genetically heterogeneous showing progressive retinal cell death which results in vision loss. IRDs include a wide spectrum of disorders, such as retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), cone-rod dystrophy (CRD), and Stargardt disease (STGD1). Methods: In this study, we performed targeted next-generation sequencing based on molecular inversion probes (MIPs) that allowed the sequence analysis of 108 IRD-associated genes in 50 Iranian IRD probands. Results: The sequencing and variant filtering led to the identification of putative pathogenic variants in 36 out of 50 (72%) probands. Among 36 unique variants, we identified 20 novel variants in 15 genes. Four out of 36 probands carry compound heterozygous variants, and 32 probands carry homozygous variants. Conclusions: Employing a cost-effective targeted next-generation sequencing procedure, we identified the genetic causes of different retinal disorders in the majority of Iranian families in this study. © 2019 Molecular Vision.
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