Workshop on RanBP2/Nup358 and acute necrotizing encephalopathy

Palazzo, Alexander F.; Joseph, Jomon; Lim, Ming; Thakur, Kiran T.

doi:10.1080/19491034.2022.2069071

Cited by 12 publications

(6 citation statements)

References 121 publications

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“…Pongpitakmetha T [11] rst reported a previously healthy 29-year-old adult case of COVID-19-associated ANE with RANBP2 mutation, who died within six days after treatment. Due to genetic susceptibility, ANE with RANBP2 mutation can be recurrent [12]. In pediatrics, Forest [13] rst reported the case of a 10-year-old girl who was infected with the new coronavirus and experienced necrotizing encephalopathy.…”

Section: Discussionmentioning

confidence: 99%

The first case of acute necrotizing encephalopathy associated with coronavirus disease in a child in Asia: a case report and literature review

Liang

Wang

Tang

2023

Preprint

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Background Acute necrotic encephalopathy（ANE） in children is a very rare complication of Severe Acute Respiratory Syndrome Coronavirus 2（SARS-CoV-2） infection, which has rarely been reported worldwide. Case presentation A 45-day-old girl was admitted to our hospital with fever and listlessness. A nose swab tested positive for novel coronavirus nucleic acid, and her cerebrospinal fluid was positive for SARS-CoV-2. An early head magnetic resonance imaging (MRI) scan indicated multiple abnormal signals in her bilateral cerebral hemispheres, and encephalitis was diagnosed. Twenty-three days after hospitalization, bilateral cerebral atrophy-like changes were observed by MRI, with multiple softening lesions in the bilateral cerebral hemispheres, accompanied by convulsions. She was admitted to hospital for mechanically-assisted ventilation, and her condition improved after treatment of her symptoms, including anti-epileptic medication, anti-infection drugs, glucocorticoids, and immunoglobulins. Conclusions Acute necrotic encephalopathy associated with novel coronavirus infection in children should be detected and treated as early as possible. Satisfactory short-term efficacy can be obtained, but long-term neurological sequelae often linger.

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Section: Discussionmentioning

confidence: 99%

The first case of acute necrotizing encephalopathy associated with coronavirus disease in a child in Asia: a case report and literature review

Liang

Wang

Tang

2023

Preprint

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“…Due to genetic susceptibility, ANE with RANBP2 mutation can be recurrent. 22 Forest 23 first reported the case of a 10-year-old girl who was infected with the new coronavirus and experienced necrotizing encephalopathy. The child was ultimately diagnosed with a RANBP2 gene mutation and admitted to the pediatric intensive care unit at the age of 2 years due to fever, flu symptoms, and insanity.…”

Section: Discussionmentioning

confidence: 99%

The youngest infant with COVID-19-associated necrotizing encephalitis in Asia: A case report

Liang,

Tang,

Wang

2023

SAGE Open Medical Case Reports

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Acute necrotic encephalopathy in children is a very rare complication of severe acute respiratory syndrome coronavirus 2 infection and has rarely been reported worldwide. A 45-day-old girl was admitted to our hospital with fever and listlessness. A nose swab tested positive for the novel coronavirus nucleic acid, and her cerebrospinal fluid was positive for severe acute respiratory syndrome coronavirus 2. An early head magnetic resonance imaging scan indicated multiple abnormal signals in her bilateral cerebral hemispheres, and encephalitis was diagnosed. Twenty-three days after hospitalization, bilateral cerebral atrophy-like changes were observed on magnetic resonance imaging, with multiple softening lesions in the bilateral cerebral hemispheres, accompanied by convulsions. She was admitted to the hospital for mechanically assisted ventilation, and her condition improved after treatment of her symptoms with antiepileptic medication, anti-infection drugs, glucocorticoids, and immunoglobulins. Acute necrotic encephalopathy associated with severe acute respiratory syndrome coronavirus 2 infection in children should be detected and treated as early as possible. Satisfactory short-term efficacy can be obtained, but long-term neurological sequelae often linger.

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“…Moreover, the incomplete penetrance of RANBP2 mutations suggests that they induce encephalopathy only in certain circumstances. Although the mechanisms responsible for this activation are still unknown, several hypotheses, related to the RANBP2 functions, have been suggested [93].…”

Section: Human Diseases Linked To Ranbp2mentioning

confidence: 99%

RANBP2 evolution and human disease

Desgraupes,

Etienne,

Arhel

2023

FEBS Letters

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RANBP2/Nup358 (Ran Binding Protein 2) is a nucleoporin and a key component of the nuclear pore complex. Through its multiple functions (e.g. SUMOylation, regulation of nucleocytoplasmic transport) and subcellular localizations (e.g. at the nuclear envelope, kinetochores, annulate lamellae), it is involved in many cellular processes. RANBP2 dysregulation or mutation leads to the development of human pathologies, such as Acute Necrotizing Encephalopathy 1 (ANE1), cancer, neurodegenerative diseases and it is also involved in viral infections. The chromosomal region containing the RANBP2 gene is highly dynamic, with high structural variation and recombination events that led to the appearance of a gene family called RGPD (RANBP2 and GCC2 Protein Domains), with multiple gene loss/duplication events during ape evolution. Although RGPD homoplasy and maintenance during evolution suggest they might confer an advantage to their hosts, their functions are still unknown and understudied. In this review, we discuss the appearance and importance of RANBP2 in metazoans and its function‐related pathologies, caused by an alteration of its expression levels (through promotor activity, post‐transcriptional or post‐translational modifications), its localization or genetic mutations.

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Workshop on RanBP2/Nup358 and acute necrotizing encephalopathy

Cited by 12 publications

References 121 publications

The first case of acute necrotizing encephalopathy associated with coronavirus disease in a child in Asia: a case report and literature review

The first case of acute necrotizing encephalopathy associated with coronavirus disease in a child in Asia: a case report and literature review

The youngest infant with COVID-19-associated necrotizing encephalitis in Asia: A case report

RANBP2 evolution and human disease

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