{"doi":"10.1016/j.jcjo.2016.03.017","title":"Single-Exome sequencing identified a novel RP2 mutation in a child with X-linked retinitis pigmentosa","abstract":null,"journal":"Canadian Journal of Ophthalmology","year":2016,"id":612536,"datarank":0.16479184330021646,"base_score":1.0986122886681096,"endowment":1.0986122886681096,"self_citation_contribution":0.16479184330021646,"citation_network_contribution":0.0,"self_endowment_contribution":0.16479184330021646,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":2,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1577233,"name":"Young-Mi Park","orcid":null,"position":1,"is_corresponding":false},{"id":129038,"name":"Jong-Keuk Lee","orcid":null,"position":2,"is_corresponding":false},{"id":1577234,"name":"Hyun Taek Lim","orcid":null,"position":3,"is_corresponding":false},{"id":1577232,"name":"Hassol Lim","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Single-Exome sequencing identified a novel RP2 mutation in a child with X-linked retinitis pigmentosa","abstract":"<h4>Objective</h4>To present an efficient and successful application of a single-exome sequencing study in a family clinically diagnosed with X-linked retinitis pigmentosa.<h4>Design</h4>Exome sequencing study based on clinical examination data.<h4>Participants</h4>An 8-year-old proband and his family.<h4>Methods</h4>The proband and his family members underwent comprehensive ophthalmologic examinations. Exome sequencing was undertaken in the proband using Agilent SureSelect Human All Exon Kit and Illumina HiSeq 2000 platform. Bioinformatic analysis used Illumina pipeline with Burrows-Wheeler Aligner-Genome Analysis Toolkit (BWA-GATK), followed by ANNOVAR to perform variant functional annotation. All variants passing filter criteria were validated by Sanger sequencing to confirm familial segregation.<h4>Results</h4>Analysis of exome sequence data identified a novel frameshift mutation in RP2 gene resulting in a premature stop codon (c.665delC, p.Pro222fsTer237). Sanger sequencing revealed this mutation co-segregated with the disease phenotype in the child's family.<h4>Conclusions</h4>We identified a novel causative mutation in RP2 from a single proband's exome sequence data analysis. This study highlights the effectiveness of the whole-exome sequencing in the genetic diagnosis of X-linked retinitis pigmentosa, over the conventional sequencing methods. Even using a single exome, exome sequencing technology would be able to pinpoint pathogenic variant(s) for X-linked retinitis pigmentosa, when properly applied with aid of adequate variant filtering strategy.","is_dataset_classified":null,"base_score":1.0986122886681096,"endowment":1.0986122886681096,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"27769321","pmcid":null,"openalex_id":"https://openalex.org/W2514251678","authors":[],"funders":[],"total_grants":0,"fwci":0.0,"citation_percentile":0.05441574,"influential_citations":0,"citation_trend":[{"year":2020,"count":1},{"year":2022,"count":1}],"oa_status":"closed","license":"https://www.elsevier.com/legal/tdmrep-license","oa_locations":[{"url":"https://api.elsevier.com/content/article/PII:S0008418216303283?httpAccept=text/xml","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S0008418216303283?httpAccept=text/plain","host_type":"publisher"},{"url":"https://doi.org/10.1016/j.jcjo.2016.03.017","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/27769321","host_type":"repository"}],"fields_of_study":["Retinal Development and Disorders","Ocular Disorders and Treatments","Hearing, Cochlea, Tinnitus, Genetics"],"mesh_terms":["Child","DNA Mutational Analysis","Electroretinography","Eye Proteins","Humans","Male","Membrane Proteins","Pedigree","Retinitis Pigmentosa","Frameshift Mutation","Sequence Analysis, DNA","Codon, Nonsense","GTP-Binding Proteins","Genetic Diseases, X-Linked","Tomography, Optical Coherence","Asian People","Intracellular Signaling Peptides and Proteins","Republic of Korea","Exome"],"keywords":["Exome sequencing","Sanger sequencing","Proband","Retinitis pigmentosa","Exome","Genetics","Frameshift mutation","Biology","Mutation","Gene"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-02T03:57:30.397291Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}