Medicine · 2025
Clinical characterization of IRF2BPL mutation: Case series and review of the literature.
СтатьяКлинический случайОбзорНазвание и аннотация: Перевод в очереди
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Lou Xiaoxia, Li Wenfeng, Pang Mend, Wang Yanqiang, Zhu Xinli, Geng Jianhong
Аннотация
RATIONALE: IRF2BPL is an intronless gene localized to chromosome 14q24.3 that encodes an interferon regulatory factor 2 binding-like protein. In this study, we reviewed the literature on mutations in the IFR2BPL gene. In addition, we report a case of Neurodevelopmental Disorder with Degeneration, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) caused by a mutation in the IFR2BPL gene. The aim of this report is to increase clinicians' awareness of such clinical cases.
PATIENT CONCERNS: In this report, we discuss the case of a 15-year-old male patient. The patient started with epilepsy and dystonia and was treated with antiepileptic seizure medication, then he was admitted to our hospital for recurrent seizures of epilepsy and dystonia, and the diagnosis of NEDAMSS was confirmed by whole exome genetic testing.
DIAGNOSES: Exome-wide genetic testing confirmed the diagnosis of NEADMSS due to IRF2BPL.
INTERVENTIONS: Exome-wide genetic testing reveals mutations in the IFR2BPL gene.
OUTCOMES: Symptoms improved from before after antiepileptic seizure medication combined with drugs to improve dystonia.
LESSONS: We have come across a case of recurrent seizures of epilepsy and dystonia due to a mutation in the IFR2BPL gene for which no definitive treatment has been found. Recently, several studies have led to the discovery of a new drug for the treatment of NEDAMSS. CuII (atsm) (copper II diacetylbis(4-methylaminouracil)) (CuATSM) is a small-molecular-weight drug that can be administered orally and then used in the human body. The literature suggests that the underlying mechanism of CuATSM involves the restoration of mitochondrial function, including correction of the mitochondrial differentiation and mislocalization observed in cells from NEDAMSS patients, but extensive trials are needed to demonstrate its efficacy in IFR2BPL-related diseases.
PATIENT CONCERNS: In this report, we discuss the case of a 15-year-old male patient. The patient started with epilepsy and dystonia and was treated with antiepileptic seizure medication, then he was admitted to our hospital for recurrent seizures of epilepsy and dystonia, and the diagnosis of NEDAMSS was confirmed by whole exome genetic testing.
DIAGNOSES: Exome-wide genetic testing confirmed the diagnosis of NEADMSS due to IRF2BPL.
INTERVENTIONS: Exome-wide genetic testing reveals mutations in the IFR2BPL gene.
OUTCOMES: Symptoms improved from before after antiepileptic seizure medication combined with drugs to improve dystonia.
LESSONS: We have come across a case of recurrent seizures of epilepsy and dystonia due to a mutation in the IFR2BPL gene for which no definitive treatment has been found. Recently, several studies have led to the discovery of a new drug for the treatment of NEDAMSS. CuII (atsm) (copper II diacetylbis(4-methylaminouracil)) (CuATSM) is a small-molecular-weight drug that can be administered orally and then used in the human body. The literature suggests that the underlying mechanism of CuATSM involves the restoration of mitochondrial function, including correction of the mitochondrial differentiation and mislocalization observed in cells from NEDAMSS patients, but extensive trials are needed to demonstrate its efficacy in IFR2BPL-related diseases.