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. |
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| 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] |
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| Database: | Psychology and Behavioral Sciences Collection |
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| 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] |
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| ISSN: | 15901874 |
| DOI: | 10.1007/s10072-024-07911-z |
