ArticleHuman genetics2007
Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.
Article in Human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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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.
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Who cites it
32 citing papers in PubMed, 62 citations in OpenAlex.
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- Biology, Pathobiology and Gene Therapy of CNG Channel-Related Retinopathies.Biomedicines · 2023Review
- Integration of human stem cell-derivedFrontiers in cell and developmental biology · 2023Article
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- Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy:Genes · 2022Article
- Structure of the human cone photoreceptor cyclic nucleotide-gated channel.Nature structural & molecular biology · 2022Article
- Disease Progression inCurrent issues in molecular biology · 2021Article
- Ametropia and Emmetropization in CNGB3 Achromatopsia.Investigative ophthalmology & visual science · 2021Article
- Case Report: A Novel Homozygous Mutation inFrontiers in genetics · 2021Article
- Generation of Nonhuman Primate Model of Cone Dysfunction throughMolecular therapy. Methods & clinical development · 2020Article
- Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families.Human molecular genetics · 2020Article
- Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing.Molecular vision · 2020Article
- Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing.Scientific reports · 2018Article
- An early nonsense mutation facilitates the expression of a short isoform of CNGA3 by alternative translation initiation.Experimental eye research · 2018Article
- Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant inMolecular vision · 2018Article
- Achromatopsia caused by novel missense mutations in the CNGA3 gene.International journal of ophthalmology · 2015Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Achromatopsia (ACHM) or rod monochromacy is an autosomal recessive and genetically heterogeneous retinal disorder. It is characterized by a lack of color discrimination, poor visual acuity, photodysphoria, pendular infantile nystagmus, and abnormal photopic electroretinographic (ERG) recordings with preservation of rod-mediated function. Mutations in three known genes are causative; including genes for the alpha and beta subunits of the cyclic nucleotide-gated cation channel (CNGA3 and CNGB3, respectively) and cone photoreceptor transducin--GNAT2. We investigated the prevalence of mutations in achromatopsia-causing genes in a cohort of 16 families with both clinical and electrophysiologic evidence consistent with autosomal recessive transmission, including one subject with achromatopsia and maternal isodisomy for chromosome 14. The most frequent mutation, p.T383fsX in CNGB3, accounted for 75% (18/24) of disease-associated alleles; intragenic SNPs in unrelated patients revealed transmission of a common haplotype consistent with a founder effect. Homozygous p.T383fsX mutation in CNGB3 that maps to chromosome 8 was detected in a patient with achromatopsia and systemic features associated with uniparental disomy (UPD) of chromosome 14. Two novel variants, p.R223G and p.A621E were found in CNGA3. We conclude that CNGA3 and CNGB3 mutations are responsible for the substantial majority of achromatopsia. Furthermore, the CNGB3 mutation p.T383fsX is a predominant mutation, results from a founder effect, and is responsible for the ACHM in the original clinical report of UPD 14.
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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.