IRF2BPL gene variants with dystonia: one new Chinese case report

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.

Automated summary

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.