ArticleScientific reports2015
Whole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa.
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 29 citations in OpenAlex.
- Polymorphic pseudogenes in the human genome - a comprehensive assessment.Human genetics · 2024Article
- Three Novel Mutations of Microphthalmos Identified in Two Chinese Families.Phenomics (Cham, Switzerland) · 2022Article
- Article
- Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.3 Biotech · 2017Review
- High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa.Scientific reports · 2017Article
- Digenic heterozygous mutations in EYS/LRP5 in a Chinese family with retinitis pigmentosa.International journal of ophthalmology · 2017Article
- Next-Generation Sequencing-Aided Rapid Molecular Diagnosis of Occult Macular Dystrophy in a Chinese Family.Frontiers in genetics · 2017Article
- Agonist Binding to Chemosensory Receptors: A Systematic Bioinformatics Analysis.Frontiers in molecular biosciences · 2017Article
- Deep Sequencing of the Human Retinae Reveals the Expression of Odorant Receptors.Frontiers in cellular neuroscience · 2017Article
- Odorant Receptor 51E2 Agonist β-ionone Regulates RPE Cell Migration and Proliferation.Frontiers in physiology · 2017Article
- Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases.Molecular vision · 2016Article
- Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.Molecular vision · 2016Article
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19 authors at 5 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Retinitis pigmentosa (RP), a heterogeneous group of inherited ocular diseases, is a genetic condition that causes retinal degeneration and eventual vision loss. Though some genes have been identified to be associated with RP, still a large part of the clinical cases could not be explained. Here we reported a four-generation Chinese family with RP, during which 6 from 9 members of the second generation affected the disease. To identify the genetic defect in this family, whole-exome sequencing together with validation analysis by Sanger sequencing were performed to find possible pathogenic mutations. After a pipeline of database filtering, including public databases and in-house databases, a novel missense mutation, c. 424 C > T transition (p.R142W) in OR2W3 gene, was identified as a potentially causative mutation for autosomal dominant RP. The mutation co-segregated with the disease phenotype over four generations. This mutation was validated in another independent three-generation family. RT-PCR analysis also identified that OR2W3 gene was expressed in HESC-RPE cell line. The results will not only enhance our current understanding of the genetic basis of RP, but also provide helpful clues for designing future studies to further investigate genetic factors for familial RP.
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