ArticleEuropean journal of human genetics : EJHG2015
Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
17 citing papers in PubMed, 34 citations in OpenAlex.
- Novel compound heterozygousExperimental and therapeutic medicine · 2025Article
- Mutations in retinal cyclic nucleotide-gated channels identified in familial cases of inherited retinal dystrophies from Pakistan.Molecular vision · 2025Article
- Article
- Biology, Pathobiology and Gene Therapy of CNG Channel-Related Retinopathies.Biomedicines · 2023Review
- Article
- Achromatopsia: Genetics and Gene Therapy.Molecular diagnosis & therapy · 2022Review
- Genetics of Inherited Retinal Diseases in Understudied Populations.Frontiers in genetics · 2022Review
- Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.PLoS genetics · 2021Article
- Sensing through Non-Sensing Ocular Ion Channels.International journal of molecular sciences · 2020Review
- Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing.Molecular vision · 2020Article
- Twenty Metabolic Genes Based Signature Predicts Survival of Glioma Patients.Journal of Cancer · 2020Article
- Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy.Investigative ophthalmology & visual science · 2019Article
- Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy.The British journal of ophthalmology · 2019Review
- An early nonsense mutation facilitates the expression of a short isoform of CNGA3 by alternative translation initiation.Experimental eye research · 2018Article
- Gene Therapy for Color Blindness.The Yale journal of biology and medicine · 2017Review
- PLMET: A Novel Pseudolikelihood-Based EM Test for Homogeneity in Generalilzed Exponential Tilt Mixture Models.Journal of the American Statistical Association · 2017Article
- Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia.Journal of translational medicine · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 5 institutions in 3 countries.
Funding
Abstract
We assessed a large consanguineous Pakistani family (PKAB157) segregating early onset low vision problems. Funduscopic and electroretinographic evaluation of affected individuals revealed juvenile cone-rod dystrophy (CRD) with maculopathy. Other clinical symptoms included loss of color discrimination, photophobia and nystagmus. Whole-exome sequencing, segregation and haplotype analyses demonstrated that a transition variant (c.955T>C; p.(Cys319Arg)) in CNGA3 co-segregated with the CRD phenotype in family PKAB157. The ability of CNGA3 channel to influx calcium in response to agonist, when expressed either alone or together with the wild-type CNGB3 subunit in HEK293 cells, was completely abolished due to p.Cys319Arg variant. Western blotting and immunolocalization studies suggest that a decreased channel density in the HEK293 cell membrane due to impaired folding and/or trafficking of the CNGA3 protein is the main pathogenic effect of the p.Cys319Arg variant. Mutant alleles of the human cone photoreceptor cyclic nucleotide-gated channel (CNGA3) are frequently associated with achromatopsia. In rare cases, variants in CNGA3 are also associated with cone dystrophy, Leber's congenital amaurosis and oligo cone trichromacy. The identification of predicted p.(Cys319Arg) missense variant in CNGA3 expands the repertoire of the known genetic causes of CRD and phenotypic spectrum of CNGA3 alleles.
Indexed as
Identifiers
What 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.