期刊
BMC NEUROLOGY
卷 23, 期 1, 页码 -出版社
BMC
DOI: 10.1186/s12883-023-03077-x
关键词
Dystonia; Dysarthria; IRF2BPL mutation
This case report describes a Chinese boy with a novel nonsense variant in the IRF2BPL gene, presenting with dystonia and dysarthria but with normal development and no seizures. Whole-exome sequencing identified a new mutation in IRF2BPL, expanding the phenotypes associated with this gene in the Chinese population and increasing awareness of patients with IRF2BPL.
BackgroundThe 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.Case presentationWe 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*).ConclusionThis case report presents a Chinese boy with a novel nonsense variant in IRF2BPL, displaying rapid progressive dystonia and dysarthria, without early developmental delay or epilepsy; expands the IRF2BPL phenotypes in the Chinese population; and raises awareness of patients with IRF2BPL.
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