Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.
Neurology Unit, Azienda Ospedaliero Universitaria di Cagliari, Cagliari, Italy.
Seizure. 2022 Jul;99:12-15. doi: 10.1016/j.seizure.2022.04.010. Epub 2022 Apr 18.
IRF2BPL is an intronless gene that was mapped to 14q24.3 chromosome in 2000 and codes for the interferon regulatory factor 2 binding like protein.
To analyses the clinical characteristics of the patients reported in the literature and of an additional patient we observed in order to better delineate the phenomenological spectrum of the disease and provide indications to improve clinical recognition and facilitate diagnosis.
We reported on 28 patients carrying the IRF2BPL mutation who were identified in 10 papers (n.27), using PUBMED as the search engine, and in our hospital (n. 1).
All patients shared developmental delay/regression. Additional neurological symptoms were present in a large proportion of patients and reflected the involvement of five main neurological domains, i.e. epilepsy, dystonia, ataxia, spasticity, and ocular disturbances. Correlation analysis suggested a significant positive correlation between the number of affected neurological domains and the presence of MRI abnormalities (rho = 0.45, p = 0.02), while no significant correlation emerged between the number of affected clinical domains and age at disease onset (rho = 0.18, p = 0.35) or variant type (rho = 0.30, p = 0.12).
Our analysis highlights that the IRF2BPL mutation syndrome is highly specific to the central nervous system. Diagnostic work-up should consider the clinical picture of the IRF2BPL mutation syndrome herein delineated and the existence of conditions that share developmental delay/regression and result from acquired/genetic or unidentifiable underlying etiology.
IRF2BPL 是一个无内含子的基因，于 2000 年被定位在 14q24.3 染色体上，编码干扰素调节因子 2 结合样蛋白。
分析文献中报道的患者和我们观察到的另一位患者的临床特征，以便更好地区分疾病的表型谱，提供改善临床识别和促进诊断的依据。
我们报道了 28 名携带 IRF2BPL 突变的患者，这些患者是在 10 篇文献（n.27）中通过 PUBMED 搜索引擎发现的，同时在我们医院（n.1）也发现了一名患者。
所有患者均存在发育迟缓/倒退。此外，许多患者还存在其他神经症状，反映了五个主要的神经领域的受累，即癫痫、肌张力障碍、共济失调、痉挛和眼部障碍。相关性分析表明，受影响的神经领域数量与 MRI 异常之间存在显著的正相关（rho=0.45，p=0.02），而受影响的临床领域数量与疾病发病年龄（rho=0.18，p=0.35）或变异类型（rho=0.30，p=0.12）之间无显著相关性。
我们的分析强调，IRF2BPL 突变综合征高度特异性地累及中枢神经系统。诊断工作应考虑到本文中阐述的 IRF2BPL 突变综合征的临床表现，以及存在与发育迟缓/倒退相关且源于获得性/遗传性或不明原因的潜在病因的疾病。
