Khan Wardah Javed, Maqsood Hamza, Younus Shifa
Northwest School of Medicine, Peshawar, Pakistan.
Khyber Girls Medical College, Peshawar, Pakistan.
BMJ Neurol Open. 2023 Aug 28;5(2):e000459. doi: 10.1136/bmjno-2023-000459. eCollection 2023.
IRF2BPL (interferon regulatory factor 2-binding protein-like) gene is an intronless gene present ubiquitously in the human body, including the brain. Pathogenic variants lead to neurodegeneration and present with phenotypic features of a neurological disorder, including dyslexia, dyscalculia, epilepsy, dystonia, neurodevelopmental regression, loss of motor skills and cerebellar ataxia.
We present a case of a 9-year-old boy who was brought to the emergency department with generalised tonic-clonic seizures and mild hypotonia. A history included neurological regression. After insignificant lab and imaging results, the patient underwent genetic testing, revealing a novel pathogenic mutation in the IRF2BPL gene (heterozygous variant), which had never been reported in the literature before. An autosomal dominant loss of function mutation was demonstrated, denoting in DNA as NM_0 24 496 c.911 C>T, which results in premature protein termination (p.Glu494).
Our case highlights the importance of early recognition of the neurological symptoms associated with various IRF2BPL gene mutations so that a timely multidisciplinary management approach can be provided.
IRF2BPL（干扰素调节因子2结合蛋白样）基因是一种无内含子基因，普遍存在于人体包括大脑中。致病变异会导致神经退行性变，并呈现出神经疾病的表型特征，包括诵读困难、计算障碍、癫痫、肌张力障碍、神经发育倒退、运动技能丧失和小脑共济失调。
我们报告一例9岁男孩，因全身性强直阵挛发作和轻度肌张力减退被送至急诊科。病史包括神经功能倒退。在实验室检查和影像学检查结果无异常后，该患者接受了基因检测，结果显示IRF2BPL基因存在一种新的致病突变（杂合变异），此前文献中从未有过报道。证实为常染色体显性功能丧失突变，在DNA中表现为NM_0 24 496 c.911 C>T，导致蛋白质过早终止（p.Glu494）。
我们的病例强调了早期识别与各种IRF2BPL基因突变相关神经症状的重要性，以便能够提供及时的多学科管理方法。
