ArticleMolecular genetics & genomic medicine2020
Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 2 of them syntheses that pooled it.
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Who cites it
28 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Review of the phenotypes and genotypes of Bardet-Biedl syndrome from China.Frontiers in genetics · 2023Pooled it
- Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review.Advances in therapy · 2022Pooled it
- CLRN1 Variants in Müller Cells Cause Mitochondrial Dysfunction in USH3A Retinal Organoids.CNS neuroscience & therapeutics · 2026Article
- Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.European journal of human genetics : EJHG · 2025Article
- Mitochondrial Macular Dystrophy-A Case Report and Mini Review of Retinal Dystrophies.Journal of clinical medicine · 2025Article
- Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.Biomolecules · 2025Review
- Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population.Scientific reports · 2025Article
- Genotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants.Scientific reports · 2025Article
- Syndromic forms of inherited retinal dystrophies: a comprehensive molecular diagnosis of consanguineous Pakistani families using capture panel sequencing.Molecular vision · 2025Article
- Application of family whole-exome sequencing for prenatal diagnosis-an analysis of 357 cases.Frontiers in medicine · 2025Article
- Exploring the Molecular Interaction Between NR2E3 and NR1D1 in Retinitis Pigmentosa: A Docking and Molecular Dynamics Study.Journal of clinical laboratory analysis · 2024Article
- A novel compound heterozygous PCDH15 variants is associated with arRP in a Chinese pedigree.BMC ophthalmology · 2024Article
- A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy.BMC ophthalmology · 2024Article
- Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study.BMC pediatrics · 2024Observational
- Improving the Yield of Genetic Diagnosis through Additional Genetic Panel Testing in Hereditary Ophthalmic Diseases.Current issues in molecular biology · 2024Article
- Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients.Orphanet journal of rare diseases · 2024Article
- Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee.Korean journal of ophthalmology : KJO · 2023Article
- Novel compound heterozygous variants in theFrontiers in cell and developmental biology · 2023Article
- Whole exome sequencing revealed 14 variants in NDP, FZD4, LRP5, and TSPAN12 genes for 20 families with familial exudative vitreoretinopathy.BMC medical genomics · 2022Article
- Clinical Features and Natural History in a Cohort of Chinese Patients with RPE65-Associated Inherited Retinal Dystrophy.Journal of clinical medicine · 2021Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThis study aimed to identify the gene variants and molecular etiologies in 76 unrelated Chinese families with retinitis pigmentosa (RP).
methodsIn total, 76 families with syndromic or nonsyndromic RP, diagnosed on the basis of clinical manifestations, were recruited for this study. Genomic DNA samples from probands were analyzed by targeted panels or whole exome sequencing. Bioinformatics analysis, Sanger sequencing, and available family member segregation were used to validate sequencing data and confirm the identities of disease-causing genes.
resultsThe participants enrolled in the study included 62 families that exhibited nonsyndromic RP, 13 that exhibited Usher syndrome, and one that exhibited Bardet-Biedl syndrome. We found that 43 families (56.6%) had disease-causing variants in 15 genes, including RHO, PRPF31, USH2A, CLRN1, BBS2, CYP4V2, EYS, RPE65, CNGA1, CNGB1, PDE6B, MERTK, RP1, RP2, and RPGR; moreover, 12 families (15.8%) had only one heterozygous variant in seven autosomal recessive RP genes, including USH2A, EYS, CLRN1, CERKL, RP1, CRB1, and SLC7A14. We did not detect any variants in the remaining 21 families (27.6%). We also identified 67 potential pathogenic gene variants, of which 24 were novel.
conclusionThe gene variants identified in this study expand the variant frequency and spectrum of RP genes; moreover, the identification of these variants supplies foundational clues for future RP diagnosis and therapy.
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