{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Yang F"],"funding":["S&amp;T Program of Chengde","S&T Program of Hebei","S&T Program of Chengde","S&amp;T Program of Hebei"],"pagination":["32"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9862514"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["23(1)"],"pubmed_abstract":["<h4>Background</h4>The carriers of damaging heterozygous variants in interferon regulatory factor 2 binding protein-like (IRF2BPL), encoding a member of the IRF2BP family of transcriptional regulators, may be affected by a variety of neurological symptoms, such as neurodevelopmental regression, language and motor developmental delay, seizures, progressive ataxia and a lack of coordination, and even dystonia.<h4>Case presentation</h4>We report a Chinese boy who presented with dystonia, dysarthria, and normal development due to nonsense IRF2BPL mutation, with intact imaging and EEG findings but without developmental delays or seizures. Whole-exome sequencing revealed a novel nonsense variant IRF2BPL (NM_024496) Exon C.562C > T (p.Arg188*).<h4>Conclusion</h4>This case report presents a Chines"],"journal":["BMC neurology"],"pubmed_title":["IRF2BPL gene variants with dystonia: one new Chinese case report."],"pmcid":["PMC9862514"],"funding_grant_id":["20377764D","201804A011"],"pubmed_authors":["Li H","Zhang JT","Zhang R","Yang F","Dai Y"],"additional_accession":[]},"is_claimable":false,"name":"IRF2BPL gene variants with dystonia: one new Chinese case report.","description":"<h4>Background</h4>The carriers of damaging heterozygous variants in interferon regulatory factor 2 binding protein-like (IRF2BPL), encoding a member of the IRF2BP family of transcriptional regulators, may be affected by a variety of neurological symptoms, such as neurodevelopmental regression, language and motor developmental delay, seizures, progressive ataxia and a lack of coordination, and even dystonia.<h4>Case presentation</h4>We report a Chinese boy who presented with dystonia, dysarthria, and normal development due to nonsense IRF2BPL mutation, with intact imaging and EEG findings but without developmental delays or seizures. Whole-exome sequencing revealed a novel nonsense variant IRF2BPL (NM_024496) Exon C.562C > T (p.Arg188*).<h4>Conclusion</h4>This case report presents a Chines","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Jan","modification":"2026-03-18T13:45:10.922Z","creation":"2025-04-04T13:07:36.092Z"},"accession":"S-EPMC9862514","cross_references":{"pubmed":["36670390"],"doi":["10.1186/s12883-023-03077-x"]}}