Article Text

Download PDFPDF
Original article
RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism

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

Statistics from Altmetric.com

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.