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Laboratory science
Original article
RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism
  1. May Al-Rashed1,2,3,
  2. Leen Abu Safieh2,
  3. Hisham Alkuraya4,
  4. Mohammed A Aldahmesh2,
  5. Jawaher Alzahrani2,8,
  6. Mohamed Diya2,
  7. Mais Hashem2,
  8. Alison J Hardcastle1,
  9. Selwa A F Al-Hazzaa2,5,9,
  10. Fowzan S Alkuraya2,6,7
  1. 1UCL Institute of Ophthalmology, Department of Genetics, London, UK
  2. 2Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
  3. 3Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, Riyadh, Saudi Arabia
  4. 4Department of Ophthalmology, Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
  5. 5Department of Ophthalmology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
  6. 6Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
  7. 7Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia
  8. 8Department of Zoology, College of Science, King Saud University, Riyadh, Saudi Arabia
  9. 9Department of Ophthalmology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
  1. Correspondence to Dr Fowzan S Alkuraya, Developmental Genetics Unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, MBC 03, PO Box 3354, Riyadh 11211, Saudi Arabia; falkuraya{at}kfshrc.edu.sa

Abstract

Background/aim Retinitis pigmentosa (RP) is the commonest form of retinal dystrophy and is usually inherited as a monogenic trait but with remarkable genetic heterogeneity. RP1 is one of the earliest identified disease genes in RP with mutations in this gene known to act both recessively and dominantly although the mutational mechanism remains unclear. This study is part of our ongoing effort to characterise RP in Saudi Arabia at the molecular level.

Methods Homozygosity mapping and candidate gene analysis.

Results The authors have identified four novel mutations, all recessive, in a number of families with a typical RP phenotype.

Conclusion The distribution of these novel and previously reported RP1 mutations makes it challenging to describe a unifying mutational mechanism for dominant versus recessive RP1-related RP.

  • RP1
  • retinitis pigmentosa
  • dominant negative
  • haploinsufficiency
  • retina
  • genetics
  • ciliary body

http://dx.doi.org/10.1136/bjophthalmol-2011-301134

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    Footnotes

    • Funding This work was supported by KACST grant 08MED497-20 (FSA).

    • Competing interests None.

    • Ethics approval Ethics approval was provided by IRB at KFHSRC.

    • Provenance and peer review Not commissioned; externally peer reviewed.