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KMID : 0381120150370100845
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Genes and Genomics
2015 Volume.37 No. 10 p.845 ~ p.849
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Whole-exome sequencing identifies a novel LRAT mutation underlying retinitis punctata albescens in a consanguineous Pakistani family
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Jelani Musharraf
Jeon Mi-Yeon
Rahman Obaid Ur
Rahim Fazal
Naeem Muhammad
Kang Chang-Soo
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Abstract
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Retinitis punctata albescens (RPA) is an ocular disease characterized by decreased visual acuity, night blindness, atropic maculopathy, and pigmentary retinopathy. Multiple genes have been linked to the etiology of RPA. In this study, we investigated the genetic causes of RPA in a consanguineous Pakistani family with multiple affected individuals. We performed whole-exome sequencing of seven family members, and screened variants co-segregating with RPA in recessive fashion. Bioinformatic and in silico analyses revealed that all affected individuals were homozygous for a novel mutation that substitutes glycine with arginine at position 66 (c.196 G>C) in exon 2 of the lecithin retinol acyltransferase (LRAT) that converts all-trans retinol to 11-cis retinal in the retinal pigment epithelium. This mutation was not present in 217 unrelated Pakistani control subjects nor in the Exome Aggregation Consortium database containing exome data from 60,638 individuals worldwide. Mutations in the LRAT gene were previously found from the patients with Leber congenital amaurosis and retinal dystrophy, however, we report first time that disruptions in this gene are also associated with RPA.
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KEYWORD
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Exome sequencing, Lecithin retinol acyltransferase, Mutations, Retinitis punctata albescens, Recessive
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