CorrespondenceNeurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype?
Section snippets
Author roles
1. Research project: A. Conception, B. Organization, C. Execution;
2. Statistical Analysis: A. Design, B. Execution, C. Review and Critique;
3. Manuscript Preparation: A. Writing of the first draft; B. Review and Critique;
Matej Skorvanek – 1ABC, 2C, 3A; Petr Dusek - 1AC, 2AB, 3A; Malgorzata Rydzanic – 1C, 2C, 3B; Anna Walczak – 1C, 2C, 3B; Joanna Kosinska – 1C, 2C, 3B; Grazyna Kostrzewa – 1C, 2C, 3B; Malgorzata Brzozowska – 1C, 2C, 3B; Vladimir Han – 1C, 2C, 3B; Petra Dosekova – 1C, 2C, 3B;
Acknowledgements
This work was supported by the National Science Centre Poland, grant 2017/27/B/NZ1/02401 to PL. The Slovak Research and Development Agency, grant APVV-14-0415.
References (5)
- et al.
IRF2BPL is associated with neurological phenotypes
Am. J. Hum. Genet.
(2018) - et al.
De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy
Genet. Med.
(2018)
Cited by (20)
Neurological phenomenology of the IRF2BPL mutation syndrome: Analysis of a new case and systematic review of the literature
2022, SeizureCitation Excerpt :Albeit its functions are largely unknown, several preclinical and clinical studies have suggested a possible role in neuronal development and homeostasis [2], transcription of the gonadotropin-releasing hormone [3], modulation of the ubiquitin-proteasome pathway (UPS) [4] and ubiquitination and degradation of β-catenin in gastric cancer [5]. To date, 27 patients with IRF2BPL mutations have been described in the literature [2],[6–14]. Here we present a patient carrying a novel pathogenetic variant of the IRF2BPL gene showing mild development delay, speech disturbances, myoclonic epilepsy and multifocal dystonia.
Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegeneration
2022, Parkinsonism and Related DisordersNeurodevelopmental disorder caused by a truncating de novo variant of IRF2BPL
2021, SeizureCitation Excerpt :In 2018, Tran et al. described 11 patients with IRF2BPL de novo truncating variants who were diagnosed with developmental epileptic encephalopathy [1]. In addition to this report, seven other studies found that IRF2BPL gene mutations were responsible for neurodevelopmental disorders [2–8]. To date, a total of 25 patients with IFR2BPL mutations have been reported worldwide, including in this study.
IRF2BPL mutation causes nigrostriatal degeneration presenting with dystonia, spasticity and keratoconus
2020, Parkinsonism and Related DisordersDo variants in IRF2BPL cause both neurological disorders and keratoconus 8?
2020, Parkinsonism and Related DisordersIRF2BPL mutations cause autosomal dominant dystonia with anarthria, slow saccades and seizures
2019, Parkinsonism and Related Disorders
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Both authors contributed to the manuscript equally as first authors.