biostudies-literatureYang FS&amp;T Program of ChengdeS&T Program of HebeiS&T Program of ChengdeS&amp;T Program of Hebei32https://www.ebi.ac.uk/biostudies/studies/S-EPMC9862514biostudies-literatureUnknown23(1)<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 ChinesBMC neurologyIRF2BPL gene variants with dystonia: one new Chinese case report.PMC986251420377764D201804A011Li HZhang JTZhang RYang FDai YfalseIRF2BPL gene variants with dystonia: one new Chinese case report.<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 Chines2023-01-01T00:00:00Z2023 Jan2026-03-18T13:45:10.922Z2025-04-04T13:07:36.092ZS-EPMC98625143667039010.1186/s12883-023-03077-x