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Clinical and genetic characteristics of RANBP2 mutations in children with acute necrotizing encephalopathy.

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Title: Clinical and genetic characteristics of RANBP2 mutations in children with acute necrotizing encephalopathy.
Authors: Fan, Chaonan (AUTHOR), Hao, Chanjuan (AUTHOR), Li, Kechun (AUTHOR), Chen, Liping (AUTHOR), Wang, Yeqing (AUTHOR), Gao, Hengmiao (AUTHOR), Li, Wei (AUTHOR), Qian, Suyun (AUTHOR)
Source: Neurological Sciences. Apr2025, Vol. 46 Issue 4, p1817-1826. 10p.
Subjects: Children's hospitals, Medical sciences, Spectrum analysis, Genetic mutation, Children's health
Abstract: Background: This study investigated RANBP2 mutations in children with acute necrotizing encephalopathy (ANE) and conducted a systematic review of the differences in clinical characteristics between with or without RANBP2 mutations. Methods: Whole-exome sequencing was performed on 19 pediatric ANE patients at Beijing Children's Hospital affiliated to Capital Medical University between 2017 and 2020. A systematic literature review was also conducted on the clinical characteristics and spectrum analysis of RANBP2 mutations. Results: Besides the common mutation site c.1754 C > T, new mutation sites were identified, including c.7454G > T, c.7474 A > G, c.7807 C > T, c.7918 C > A, and c.872 A > G. These sites are highly conserved. Twenty-four publications describing 38 ANE children were reviewed, of which 22 cases had the RANBP2 mutations. When combined with our study, the data included 54 ANE children aged from 3 months to 120 months, and divided into RANBP2 mutation group (n = 26) and non-mutation group (n = 28). No significant differences were observed in initial presentations, neuroimaging, treatment, or outcomes between these two groups. However, children with RANBP2 mutations had slightly elevated blood ammonia levels and a broader etiological spectrum, especially involving non-influenza pathogens. Conclusion: This study highlights novel RANBP2 mutation sites in ANE children and associates these mutations with higher blood ammonia levels and diverse etiologies. [ABSTRACT FROM AUTHOR]
Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Clinical and genetic characteristics of RANBP2 mutations in children with acute necrotizing encephalopathy.
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  Data: <searchLink fieldCode="AR" term="%22Fan%2C+Chaonan%22">Fan, Chaonan</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Hao%2C+Chanjuan%22">Hao, Chanjuan</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Li%2C+Kechun%22">Li, Kechun</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Chen%2C+Liping%22">Chen, Liping</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Wang%2C+Yeqing%22">Wang, Yeqing</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Gao%2C+Hengmiao%22">Gao, Hengmiao</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Li%2C+Wei%22">Li, Wei</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Qian%2C+Suyun%22">Qian, Suyun</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22Neurological+Sciences%22">Neurological Sciences</searchLink>. Apr2025, Vol. 46 Issue 4, p1817-1826. 10p.
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  Data: <searchLink fieldCode="DE" term="%22Children's+hospitals%22">Children's hospitals</searchLink><br /><searchLink fieldCode="DE" term="%22Medical+sciences%22">Medical sciences</searchLink><br /><searchLink fieldCode="DE" term="%22Spectrum+analysis%22">Spectrum analysis</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+mutation%22">Genetic mutation</searchLink><br /><searchLink fieldCode="DE" term="%22Children's+health%22">Children's health</searchLink>
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  Data: Background: This study investigated RANBP2 mutations in children with acute necrotizing encephalopathy (ANE) and conducted a systematic review of the differences in clinical characteristics between with or without RANBP2 mutations. Methods: Whole-exome sequencing was performed on 19 pediatric ANE patients at Beijing Children's Hospital affiliated to Capital Medical University between 2017 and 2020. A systematic literature review was also conducted on the clinical characteristics and spectrum analysis of RANBP2 mutations. Results: Besides the common mutation site c.1754 C > T, new mutation sites were identified, including c.7454G > T, c.7474 A > G, c.7807 C > T, c.7918 C > A, and c.872 A > G. These sites are highly conserved. Twenty-four publications describing 38 ANE children were reviewed, of which 22 cases had the RANBP2 mutations. When combined with our study, the data included 54 ANE children aged from 3 months to 120 months, and divided into RANBP2 mutation group (n = 26) and non-mutation group (n = 28). No significant differences were observed in initial presentations, neuroimaging, treatment, or outcomes between these two groups. However, children with RANBP2 mutations had slightly elevated blood ammonia levels and a broader etiological spectrum, especially involving non-influenza pathogens. Conclusion: This study highlights novel RANBP2 mutation sites in ANE children and associates these mutations with higher blood ammonia levels and diverse etiologies. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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              Text: Apr2025
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