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Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review
Syntaxin-binding protein1 (STXBP1) is a member of the Sec1/Munc18-1 protein family, which comprises important regulators of the secretory and synaptic vesicle fusion machinery underlying hormonal and neuronal transmission, respectively. STXBP1 pathogenic variants are associated with multiple neurolo...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9589999/ https://www.ncbi.nlm.nih.gov/pubmed/36278550 http://dx.doi.org/10.3390/pediatric14040046 |
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author | Takeda, Kanako Miyamoto, Yusaku Yamamoto, Hisako Iwasaki, Toshiyuki Sumitomo, Noriko Takeshita, Eri Ishii, Atsushi Hirose, Shinichi Shimizu, Naoki |
author_facet | Takeda, Kanako Miyamoto, Yusaku Yamamoto, Hisako Iwasaki, Toshiyuki Sumitomo, Noriko Takeshita, Eri Ishii, Atsushi Hirose, Shinichi Shimizu, Naoki |
author_sort | Takeda, Kanako |
collection | PubMed |
description | Syntaxin-binding protein1 (STXBP1) is a member of the Sec1/Munc18-1 protein family, which comprises important regulators of the secretory and synaptic vesicle fusion machinery underlying hormonal and neuronal transmission, respectively. STXBP1 pathogenic variants are associated with multiple neurological disorders. Herein, we present the case of a Japanese girl with a mutation in the STXBP1 gene, who was born at 40 weeks without neonatal asphyxia. At 15 days old, she developed epilepsy and generalized seizures. Around 88 days old, she presented with a series of nodding spasms, with the seizure frequency gradually increasing. Interictal EEG indicated hypsarrhythmia and she presented with developmental regression. At 1.5 years old, genetic testing was performed and mutational analysis revealed an STXBP1 gene mutation (c.875G > A: p.Arg292His). Accordingly, she was diagnosed with developmental and epileptic encephalopathy, presenting West syndrome’s clinical characteristics caused by the STXBP1 gene mutation. Although drug treatment has reduced the frequency of epileptic seizures, her development has remained regressive. The relationship between the location and type of genetic abnormality and the phenotype remains unclear. Future studies should investigate the genotype–phenotype correlation and the underlying pathophysiology to elucidate the causal relationships among the multiple phenotype-determining factors. |
format | Online Article Text |
id | pubmed-9589999 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-95899992022-10-25 Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review Takeda, Kanako Miyamoto, Yusaku Yamamoto, Hisako Iwasaki, Toshiyuki Sumitomo, Noriko Takeshita, Eri Ishii, Atsushi Hirose, Shinichi Shimizu, Naoki Pediatr Rep Case Report Syntaxin-binding protein1 (STXBP1) is a member of the Sec1/Munc18-1 protein family, which comprises important regulators of the secretory and synaptic vesicle fusion machinery underlying hormonal and neuronal transmission, respectively. STXBP1 pathogenic variants are associated with multiple neurological disorders. Herein, we present the case of a Japanese girl with a mutation in the STXBP1 gene, who was born at 40 weeks without neonatal asphyxia. At 15 days old, she developed epilepsy and generalized seizures. Around 88 days old, she presented with a series of nodding spasms, with the seizure frequency gradually increasing. Interictal EEG indicated hypsarrhythmia and she presented with developmental regression. At 1.5 years old, genetic testing was performed and mutational analysis revealed an STXBP1 gene mutation (c.875G > A: p.Arg292His). Accordingly, she was diagnosed with developmental and epileptic encephalopathy, presenting West syndrome’s clinical characteristics caused by the STXBP1 gene mutation. Although drug treatment has reduced the frequency of epileptic seizures, her development has remained regressive. The relationship between the location and type of genetic abnormality and the phenotype remains unclear. Future studies should investigate the genotype–phenotype correlation and the underlying pathophysiology to elucidate the causal relationships among the multiple phenotype-determining factors. MDPI 2022-09-20 /pmc/articles/PMC9589999/ /pubmed/36278550 http://dx.doi.org/10.3390/pediatric14040046 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Takeda, Kanako Miyamoto, Yusaku Yamamoto, Hisako Iwasaki, Toshiyuki Sumitomo, Noriko Takeshita, Eri Ishii, Atsushi Hirose, Shinichi Shimizu, Naoki Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review |
title | Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review |
title_full | Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review |
title_fullStr | Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review |
title_full_unstemmed | Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review |
title_short | Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review |
title_sort | mutation in the stxbp1 gene associated with early onset west syndrome: a case report and literature review |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9589999/ https://www.ncbi.nlm.nih.gov/pubmed/36278550 http://dx.doi.org/10.3390/pediatric14040046 |
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