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Article

RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.

Human mutation - 1 Mar 2013

Davidson Alice E, Sergouniotis Panagiotis I, Mackay Donna S, Wright Genevieve A, Waseem Naushin H, Michaelides Michel, Holder Graham E, Robson Anthony G, Moore Anthony T, Plagnol Vincent, Webster Andrew R

Abstract excerpt

In one consanguineous family with retinitis pigmentosa (RP), a condition characterized by progressive visual loss due to retinal degeneration, homozygosity mapping, and candidate gene sequencing suggested a novel locus. Exome sequencing identified a homozygous frameshifting mutation, c.601delG, p.Lys203Argfs*28, in RP1L1 encoding RP 1-like1, a photoreceptor-specific protein. A screen of a further 285 unrelated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 23281133
DOI: 10.1002/humu.22264

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