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

@article{Davidson2013RP1L1VA,
  title={RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.},
  author={Alice Davidson and Panagiotis I. Sergouniotis and D. Scott Mackay and Genevieve A. Wright and Naushin H. Waseem and Michel Michaelides and G. E. Holder and Anthony George Robson and Anthony T Moore and Vincent Plagnol and Andrew R. Webster},
  journal={Human mutation},
  year={2013},
  volume={34 3},
  pages={506-14}
}
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 individuals with autosomal recessive RP identified an additional proband, homozygous… CONTINUE READING

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Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations

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