{"doi":"10.4238/gmr16029615","title":"SETD5 gene variant associated with mild intellectual disability - a case report","abstract":null,"journal":"Genetics and Molecular Research","year":2017,"id":629659,"datarank":0.4636563680037475,"base_score":3.091042453358316,"endowment":3.091042453358316,"self_citation_contribution":0.4636563680037475,"citation_network_contribution":0.0,"self_endowment_contribution":0.4636563680037475,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":21,"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":1630868,"name":"L.A. Soares","orcid":null,"position":1,"is_corresponding":false},{"id":1630869,"name":"I.D. Louro","orcid":null,"position":2,"is_corresponding":false},{"id":1630867,"name":"E. Stur","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"SETD5 gene variant associated with mild intellectual disability - a case report","abstract":"The recent advent of exome sequencing has allowed for the identification of pathogenic gene variants responsible for a variety of diseases that were previously clinically diagnosed, with no underlying molecular etiology. Among these conditions, intellectual disability is a prevalent heterogeneous condition, presenting itself in a large spectrum of intensity, in some cases associated with congenital malformations, behavioral and various other intellectual development alterations. Here we report on a 36-year-old male patient, with a mild intellectual disability that remained undiagnosed at the molecular level for all his life. Using Nextera Exome Sequencing, a Chr3:9.517.294 A>AC (c.3848_3849insC) SETD5 gene insertion was found. This rare variant was classified as likely pathogenic due to its frameshift nature in the gene, in which loss-of-function mutations have been previously reported to cause intellectual disability, as well as a 3p25.3 microdeletion phenotype. It is possible that this variant shows partial activity, due to its gene localization, which would explain the patient's mild phenotype when compared with other reports.","is_dataset_classified":null,"base_score":3.091042453358316,"endowment":3.091042453358316,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"28549204","pmcid":null,"openalex_id":"https://openalex.org/W2617920866","authors":[],"funders":[],"total_grants":0,"fwci":0.6011,"citation_percentile":0.72892526,"influential_citations":0,"citation_trend":[{"year":2018,"count":1},{"year":2019,"count":1},{"year":2020,"count":1},{"year":2021,"count":1},{"year":2022,"count":1},{"year":2023,"count":3},{"year":2024,"count":10},{"year":2025,"count":1},{"year":2026,"count":2}],"oa_status":"bronze","license":null,"oa_locations":[{"url":"https://doi.org/10.4238/gmr16029615","host_type":"journal"},{"url":"https://doi.org/10.4238/gmr16029615","host_type":"publisher"},{"url":"http://www.funpecrp.com.br/gmr/year2017/vol16-2/pdf/gmr-16-02-gmr.16029615.pdf","host_type":"publisher"},{"url":"https://pubmed.ncbi.nlm.nih.gov/28549204","host_type":"repository"}],"fields_of_study":["Genetics and Neurodevelopmental Disorders","Genomics and Rare Diseases"],"mesh_terms":["Adult","Humans","Male","Intellectual Disability","Methyltransferases","Frameshift Mutation"],"keywords":["Intellectual disability","Exome sequencing","Frameshift mutation","Genetics","Gene","Phenotype","Etiology","Medicine","Biology","Exome","Bioinformatics","Pathology"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Quality Education"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-05T19:20:42.114588Z","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":[]}