ArticleMolecular vision2011
Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa.
Article in Molecular vision, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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Who cites it
16 citing papers in PubMed, 19 citations in OpenAlex.
- Article
- A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.BMC ophthalmology · 2023Article
- Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.PLoS genetics · 2021Article
- Clinical Phenotype ofInternational journal of molecular sciences · 2021Observational
- Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives.Progress in retinal and eye research · 2020Review
- A novel intronic mutation ofMolecular vision · 2019Article
- Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.Investigative ophthalmology & visual science · 2017Article
- Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa.Human genome variation · 2016Article
- Novel mutations in PDE6B causing human retinitis pigmentosa.International journal of ophthalmology · 2016Article
- Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations.Documenta ophthalmologica. Advances in ophthalmology · 2015Article
- Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.PloS one · 2015Article
- Next-generation sequencing revealed a novel mutation in the gene encoding the beta subunit of rod phosphodiesterase.Ophthalmic genetics · 2014Article
- Article
- AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degeneration.Molecular vision · 2014Article
- Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.Molecular vision · 2013Article
- Restoration of vision in the pde6β-deficient dog, a large animal model of rod-cone dystrophy.Molecular therapy : the journal of the American Society of Gene Therapy · 2012Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
purposeThis study was designed to identify pathogenic mutations causing autosomal recessive retinitis pigmentosa (RP) in consanguineous Pakistani families.
methodsTwo consanguineous families affected with autosomal recessive RP were identified from the Punjab Province of Pakistan. All affected individuals underwent a thorough ophthalmologic examination. Blood samples were collected, and genomic DNAs were extracted. Exclusion analysis was completed, and two-point LOD scores were calculated. Bidirectional sequencing of the β subunit of phosphodiesterase 6 (PDE6β) was completed.
resultsDuring exclusion analyses both families localized to chromosome 4p, harboring PDE6β, a gene previously associated with autosomal recessive RP. Sequencing of PDE6β identified missense mutations: c.1655G>A (p.R552Q) and c.1160C>T (p.P387L) in families PKRP161 and PKRP183, respectively. Bioinformatic analyses suggested that both mutations are deleterious for the native three-dimensional structure of the PDE6β protein.
conclusionsThese results strongly suggest that mutations in PDE6β are responsible for the disease phenotype in the consanguineous Pakistani families.
Indexed as
Identifiers
21655355PMC3108895W1524174242What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.