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.
- retinitis pigmentosa
- dominant negative
- ciliary body
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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.