ArticlePloS one2013
Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 64 citations in OpenAlex.
- Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center.Investigative ophthalmology & visual science · 2022Pooled it
- Clinical and genetic features ofFrontiers in medicine · 2025Article
- Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia.BMC medical genomics · 2024Article
- Natural disease history of a canine model of oligogenic RPGRIP1-cone-rod dystrophy establishes variable effects of previously and newly mapped modifier loci.Human molecular genetics · 2023Article
- Identifying two pathogenic variants in a patient with pigmented paravenous retinochoroidal atrophy.Open life sciences · 2023Article
- Clinical and genetic investigations in Chinese families with retinitis pigmentosa.Experimental biology and medicine (Maywood, N.J.) · 2022Article
- Biochemistry and physiology of zebrafish photoreceptors.Pflugers Archiv : European journal of physiology · 2021Review
- Genotype-Phenotype Analysis ofFrontiers in genetics · 2021Article
- Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype-Phenotype Correlation in 228 Patients.Frontiers in cell and developmental biology · 2021Article
- Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration.International journal of molecular sciences · 2020Article
- PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults.Investigative ophthalmology & visual science · 2020Article
- Sensing through Non-Sensing Ocular Ion Channels.International journal of molecular sciences · 2020Review
- Molecular mechanisms underlying selective synapse formation of vertebrate retinal photoreceptor cells.Cellular and molecular life sciences : CMLS · 2020Review
- Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing.Molecular vision · 2020Article
- A nonhuman primate model of inherited retinal disease.The Journal of clinical investigation · 2019Article
- A novel CRX frameshift mutation causing cone-rod dystrophy in a Chinese family: A case report.Medicine · 2018Article
- Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.Scientific reports · 2018Article
- Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.Molecular vision · 2018Article
- Genomic strategies to understand causes of keratoconus.Molecular genetics and genomics : MGG · 2017Review
- Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies.Molecular vision · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveThe goal of this study was to identify mutations in 25 known causative genes in 47 unrelated Chinese families with cone-rod dystrophy (CORD).
methodsForty-seven probands from unrelated families with CORD were recruited. Genomic DNA prepared from leukocytes was analyzed by whole exome sequencing. Variants in the 25 genes were selected and then validated by Sanger sequencing.
resultsFourteen potential pathogenic mutations, including nine novel and five known, were identified in 10 of the 47 families (21.28%). Homozygous, compound heterozygous, and hemizygous mutations were detected in three, four, or three families, respectively. The 14 mutations in the 10 families were distributed among CNGB3 (three families), PDE6C (two families), ABCA4 (one family), RPGRIP1 (one family), RPGR (two families), and CACNA1F (one family).
conclusionsThis study provides a brief view on mutation spectrum of the 25 genes in a Chinese cohort with CORD. Identification of novel mutations enriched our understanding of variations in these genes and their associated phenotypes. To our knowledge, this is the first systemic exome-sequencing analysis of all of the 25 CORD-associated genes.
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.