Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

Retinitis pigmentosa (RP) is a genetically heterogenous group of inherited disorders, characterized by death of the retinal photoreceptor cells, leading to progressive visual impairment. One form of RP is caused by mutations in the ubiquitously expressed splicing factor, PRPF31, this form being known as RP11. An intriguing feature of RP11 is the presence of non-penetrance, which has been observed in the majority of PRPF31 mutation-carrying families. In contrast to variable expressivity, which is highly pervasive, true non-penetrance is a very rare phenomenon in Mendelian disorders. In this article, the molecular mechanisms underlying phenotypic non-penetrance in RP11 are explored. It is an elegant example of how our understanding of monogenic disorders has evolved from studying only the disease gene, to considering a mutation on the genetic background of the individual - the logical evolution in this genomic era.

Original publication




Journal article


Clinical genetics

Publication Date





118 - 126


Department of Genetics, UCL Institute of Ophthalmology, London, UK.


Chromosomes, Human, Pair 19, Humans, Retinitis Pigmentosa, Eye Proteins, Transcription Factors, Gene Expression Profiling, Pedigree, Signal Transduction, Cell Death, Gene Expression Regulation, Gene Frequency, Phenotype, Penetrance, Mutation, Alleles, Scavenger Receptors, Class A, Promoter Regions, Genetic, Retinal Rod Photoreceptor Cells, Retinal Cone Photoreceptor Cells, Haploinsufficiency