PDF(Pubmed)
Abstract：
UNASSIGNED: 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.
UNASSIGNED: 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).
UNASSIGNED: 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.
UNASSIGNED: 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).
UNASSIGNED: 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.
摘要：
■IRF2BPL（干扰素调节因子2结合蛋白样）基因是普遍存在于人体中的无内含子基因，包括大脑。致病变异导致神经变性，并呈现神经系统疾病的表型特征，包括诵读困难,计算障碍,癫痫,肌张力障碍,神经发育回归，运动技能丧失和小脑共济失调。
我们介绍了一例9岁男孩因全身强直-阵挛性癫痫发作和轻度张力减退而被送往急诊科的病例。病史包括神经系统消退。经过无关紧要的实验室和成像结果，病人接受了基因检测,揭示了IRF2BPL基因（杂合变体）中的新致病性突变，这是以前文献中从未报道过的。显示了常染色体显性功能丧失突变，在DNA中表示为NM_024496c.911C>T，这导致蛋白质过早终止(p.Glu494）。
■我们的案例强调了早期识别与各种IRF2BPL基因突变相关的神经系统症状的重要性，以便可以提供及时的多学科管理方法。
我们介绍了一例9岁男孩因全身强直-阵挛性癫痫发作和轻度张力减退而被送往急诊科的病例。病史包括神经系统消退。经过无关紧要的实验室和成像结果，病人接受了基因检测,揭示了IRF2BPL基因（杂合变体）中的新致病性突变，这是以前文献中从未报道过的。显示了常染色体显性功能丧失突变，在DNA中表示为NM_024496c.911C>T，这导致蛋白质过早终止(p.Glu494）。
■我们的案例强调了早期识别与各种IRF2BPL基因突变相关的神经系统症状的重要性，以便可以提供及时的多学科管理方法。
