IRF2BPL gene variants with dystonia: one new Chinese case report.

ABSTRACT:

Background

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.

Case presentation

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*).

Conclusion

This case report presents a Chines

SUBMITTER: Yang F 

PROVIDER: S-EPMC9862514 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature