ArticleThe British journal of ophthalmology2002
A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa.
Article in The British journal of ophthalmology, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 23 citations in OpenAlex.
- Updating the Genetic Landscape of Inherited Retinal Dystrophies.Frontiers in cell and developmental biology · 2021Article
- Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa.Documenta ophthalmologica. Advances in ophthalmology · 2018Article
- Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.Molecular vision · 2017Article
- Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.Scientific reports · 2016Article
- Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases.Molecular vision · 2016Article
- Article
- Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype.PloS one · 2012Article
- Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family.Molecular vision · 2012Article
- Temporal ChIP-on-Chip of RNA-Polymerase-II to detect novel gene activation events during photoreceptor maturation.Molecular vision · 2010Article
- RP1 is required for the correct stacking of outer segment discs.Investigative ophthalmology & visual science · 2003Article
- Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP.Advances in experimental medicine and biology · 2003Review
- A novelAdvances in ophthalmology practice and researchArticle
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBesides the three known genes (RHO, RDS/Peripherin, NRL) involved in autosomal dominant retinitis pigmentosa (adRP), a fourth gene, RP1, has been recently identified. Initial reports suggest that mutations in the RP1 gene are the second most frequent cause of adRP. The clinical findings were described in a family with adRP and a novel mutation in the RP1 gene.
methodIndex patients from 15 independent families with adRP in which RHO mutations had been excluded in previous examinations were screened for mutations in the RP1 gene by means of direct DNA sequencing. Evaluation of the RP1 phenotype in patients included funduscopy, kinetic perimetry, dark adapted final threshold test, standard electroretinography and, in one case, multifocal electroretinography.
resultsOne novel nonsense mutation (Lys778ter) in one of these 15 patients was detected. Cosegregation of the mutation with the disease phenotype could be established in the index patient's family. The phenotype comprises variable expression of clinical disease probably including one case of incomplete penetrance, a onset of symptoms beginning in adulthood, and evidence of regionally varying retinal function loss.
conclusionThe Lys778ter mutation localises inside the critical region harbouring all mutations described so far. The ophthalmic findings support previous observations that variation of disease expression appears as a typical feature of the RP1 phenotype.
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