ArticleScientific reports2016
Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 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
14 citing papers in PubMed, 28 citations in OpenAlex.
- The mutational and clinical spectrum ofFrontiers in genetics · 2026Article
- Rare eye diseases in India: A concise review of genes and genetics.Indian journal of ophthalmology · 2022Review
- Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.NPJ genomic medicine · 2021Article
- Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy.Orphanet journal of rare diseases · 2021Review
- Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next‑generation sequencing.Molecular medicine reports · 2020Article
- Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree.Bioscience reports · 2020Article
- A Review on the Challenges in Indian Genomics Research for Variant Identification and Interpretation.Frontiers in genetics · 2020Review
- Whole exome sequencing reveals novelMolecular vision · 2019Article
- Compound pathogenic mutation in the USH2A gene in Chinese RP families detected by whole‑exome sequencing.Molecular medicine reports · 2018Article
- A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus.American journal of ophthalmology · 2018Article
- Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent.European journal of human genetics : EJHG · 2017Article
- Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy.Scientific reports · 2017Article
- Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.Investigative ophthalmology & visual science · 2017Article
- Eyes shut homolog is required for maintaining the ciliary pocket and survival of photoreceptors in zebrafish.Biology open · 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
19 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Retinitis pigmentosa (RP) is a rare heterogeneous genetic retinal dystrophy disease, and despite years of research, known genetic mutations can explain only approximately 60% of RP cases. We sought to identify the underlying genetic mutations in a cohort of fourteen Indian autosomal recessive retinitis pigmentosa (arRP) families and 100 Indian sporadic RP cases. Whole-exome sequencing (WES) was performed on the probands of the arRP families and sporadic RP patients, and direct Sanger sequencing was used to confirm the causal mutations identified by WES. We found that the mutations of EYS are likely pathogenic mutations in two arRP families and eight sporadic patients. Specifically, we found a novel pair of compound heterozygous mutations and a novel homozygous mutation in two separate arRP families, and found two novel heterozygous mutations in two sporadic RP patients, whereas we found six novel homozygous mutations in six sporadic RP patients. Of these, one was a frameshift mutation, two were stop-gain mutations, one was a splicing mutation, and the others were missense mutations. In conclusion, our findings expand the spectrum of EYS mutations in RP in the Indian population and provide further support for the role of EYS in the pathogenesis and clinical diagnosis of RP.
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.