Phenotypes in Children With SYNGAP1 Encephalopathy in China

Objective: We aimed to explore the associated clinical phenotype and the natural history of patients with SYNGAP1 gene variations during early childhood and to identify their genotype–phenotype correlations.Methods: This study used a cohort of 13 patients with epilepsy and developmental disorder due...

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Autores principales:	Huiting Zhang, Liu Yang, Jing Duan, Qi Zeng, Li Chen, Yu Fang, Junjie Hu, Dezhi Cao, Jianxiang Liao
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	SYNGAP1 gene intellectual disability China epilepsy neurodevelopmental disorder Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
Acceso en línea:	https://doaj.org/article/b948545f29714b828e2b522d85a7dfbb
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spelling	oai:doaj.org-article:b948545f29714b828e2b522d85a7dfbb2021-12-02T11:44:03ZPhenotypes in Children With SYNGAP1 Encephalopathy in China1662-453X10.3389/fnins.2021.761473https://doaj.org/article/b948545f29714b828e2b522d85a7dfbb2021-12-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fnins.2021.761473/fullhttps://doaj.org/toc/1662-453XObjective: We aimed to explore the associated clinical phenotype and the natural history of patients with SYNGAP1 gene variations during early childhood and to identify their genotype–phenotype correlations.Methods: This study used a cohort of 13 patients with epilepsy and developmental disorder due to SYNGAP1 mutations, namely, 7 patients from Shenzhen Children’s Hospital between September 2014 and January 2020 and 6 patients from previously published studies. Their clinical data were studied.Results: A total of 13 children with SYNGAP1 gene variants (eight boys and five girls) were identified. The age of disease onset was in infancy. Mutations were located between exons 8 and 15; most were frameshift or truncated mutations. Four mutation sites (c.924G > A, c.1532-2_1532del, c.1747_1755dup, and c.1735_1738del) had not been reported before. All patients had global developmental delay within the first year of life, and intellectual impairment became gradually apparent. Some of them developed behavioral problems. The developmental delay occurred before the onset of seizures. All seven patients in our cohort presented with epilepsy; myoclonic seizures, absence seizures, and epileptic spasms were the most common seizure types. Abnormal electroencephalograms were identified from five patients before the onset of their seizures. All patients suffered from drug-resistance seizures. However, comorbidities such as behavioral problems were less frequently observed.Conclusion: The most common age of disease onset in SYNGAP1 gene mutations is in infancy, while neurodevelopmental delay and epilepsy are the major phenotypes. They have a higher percentage of drug-resistant epilepsy and epileptic spasms than those in previous reports. We should give attention to the patients with abnormal EEGs without seizures and think about the suitable time of the anti-seizure medications for them. We have not found the genotype–phenotype correlation.Trial registration: Chinese Clinical Trial Registry, Registration number: ChiCTR2100049289 (https://www.chictr.org.cn/listbycreater.aspx).Huiting ZhangLiu YangJing DuanQi ZengLi ChenYu FangJunjie HuDezhi CaoJianxiang LiaoFrontiers Media S.A.articleSYNGAP1 geneintellectual disabilityChinaepilepsyneurodevelopmental disorderNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571ENFrontiers in Neuroscience, Vol 15 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	SYNGAP1 gene intellectual disability China epilepsy neurodevelopmental disorder Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
spellingShingle	SYNGAP1 gene intellectual disability China epilepsy neurodevelopmental disorder Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Huiting Zhang Liu Yang Jing Duan Qi Zeng Li Chen Yu Fang Junjie Hu Dezhi Cao Jianxiang Liao Phenotypes in Children With SYNGAP1 Encephalopathy in China
description	Objective: We aimed to explore the associated clinical phenotype and the natural history of patients with SYNGAP1 gene variations during early childhood and to identify their genotype–phenotype correlations.Methods: This study used a cohort of 13 patients with epilepsy and developmental disorder due to SYNGAP1 mutations, namely, 7 patients from Shenzhen Children’s Hospital between September 2014 and January 2020 and 6 patients from previously published studies. Their clinical data were studied.Results: A total of 13 children with SYNGAP1 gene variants (eight boys and five girls) were identified. The age of disease onset was in infancy. Mutations were located between exons 8 and 15; most were frameshift or truncated mutations. Four mutation sites (c.924G > A, c.1532-2_1532del, c.1747_1755dup, and c.1735_1738del) had not been reported before. All patients had global developmental delay within the first year of life, and intellectual impairment became gradually apparent. Some of them developed behavioral problems. The developmental delay occurred before the onset of seizures. All seven patients in our cohort presented with epilepsy; myoclonic seizures, absence seizures, and epileptic spasms were the most common seizure types. Abnormal electroencephalograms were identified from five patients before the onset of their seizures. All patients suffered from drug-resistance seizures. However, comorbidities such as behavioral problems were less frequently observed.Conclusion: The most common age of disease onset in SYNGAP1 gene mutations is in infancy, while neurodevelopmental delay and epilepsy are the major phenotypes. They have a higher percentage of drug-resistant epilepsy and epileptic spasms than those in previous reports. We should give attention to the patients with abnormal EEGs without seizures and think about the suitable time of the anti-seizure medications for them. We have not found the genotype–phenotype correlation.Trial registration: Chinese Clinical Trial Registry, Registration number: ChiCTR2100049289 (https://www.chictr.org.cn/listbycreater.aspx).
format	article
author	Huiting Zhang Liu Yang Jing Duan Qi Zeng Li Chen Yu Fang Junjie Hu Dezhi Cao Jianxiang Liao
author_facet	Huiting Zhang Liu Yang Jing Duan Qi Zeng Li Chen Yu Fang Junjie Hu Dezhi Cao Jianxiang Liao
author_sort	Huiting Zhang
title	Phenotypes in Children With SYNGAP1 Encephalopathy in China
title_short	Phenotypes in Children With SYNGAP1 Encephalopathy in China
title_full	Phenotypes in Children With SYNGAP1 Encephalopathy in China
title_fullStr	Phenotypes in Children With SYNGAP1 Encephalopathy in China
title_full_unstemmed	Phenotypes in Children With SYNGAP1 Encephalopathy in China
title_sort	phenotypes in children with syngap1 encephalopathy in china
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/b948545f29714b828e2b522d85a7dfbb
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Phenotypes in Children With SYNGAP1 Encephalopathy in China

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