ArticleMolecular vision2009
A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.
Article in Molecular vision, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 24 citations in OpenAlex.
- Article
- Genetic and bioinformatic analysis of RHO and PRPH2 variants in north Indian retinitis pigmentosa patients.Japanese journal of ophthalmology · 2026Article
- Expanding the clinical and genetic spectrum ofExperimental biology and medicine (Maywood, N.J.) · 2026Article
- Deciphering the Genetic Basis of Degenerative and Developmental Eye Disorders in 50 Pakistani Consanguineous Families Using Whole-Exome Sequencing.International journal of molecular sciences · 2025Article
- Syndromic forms of inherited retinal dystrophies: a comprehensive molecular diagnosis of consanguineous Pakistani families using capture panel sequencing.Molecular vision · 2025Article
- In vivo photoreceptor base editing ameliorates rhodopsin-E150K autosomal-recessive retinitis pigmentosa in mice.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Article
- Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families.BMC ophthalmology · 2023Article
- Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations.Vision research · 2023Article
- Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.PLoS genetics · 2021Article
- Polyphenols and Visual Health: Potential Effects on Degenerative Retinal Diseases.Molecules (Basel, Switzerland) · 2021Review
- HeterozygousBioscience reports · 2019Article
- The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy.Progress in retinal and eye research · 2018Review
- Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7.Scientific reports · 2016Article
- Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.Scientific reports · 2015Article
- Article
- Article
- Chemistry of the retinoid (visual) cycle.Chemical reviews · 2014Review
- Autosomal recessive retinitis pigmentosa E150K opsin mice exhibit photoreceptor disorganization.The Journal of clinical investigation · 2013Article
- Functional characterization of a novel c.614-622del rhodopsin mutation in a French pedigree with retinitis pigmentosa.Molecular vision · 2012Article
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Authors and funding
14 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo identify the gene mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in Pakistani families.
methodsA cohort of consanguineous families with typical RP phenotype in patients was screened by homozygosity mapping using microsatellite markers that mapped close to 21 known arRP genes and five arRP loci. Mutation analysis was performed by direct sequencing of the candidate gene.
resultsIn two families, RP21 and RP53, homozygosity mapping suggested RHO, the gene encoding rhodopsin, as a candidate disease gene on chromosome 3q21. In six out of seven affected members from the two families, direct sequencing of RHO identified a homozygous c.448G>A mutation resulting in the p.Glu150Lys amino acid change. This variant was first reported in PMK197, an Indian arRP family. Single nucleotide polymorphism analysis in RP21, RP53, and PMK197 showed a common disease-associated haplotype in the three families.
conclusionsIn two consanguineous Pakistani families with typical arRP phenotype in the patients, we identified a disease-causing mutation (p.Glu150Lys) in the RHO gene. Single nucleotide polymorphism analysis suggests that the previously reported Indian family (PMK197) and the two Pakistani families studied here share the RHO p.Glu150Lys mutation due to a common ancestry.
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19960070PMC2787306W1560463552What OpenQuestion holds
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