Truncating mutation in TANC2 in a Chinese boy associated with Lennox-Gastaut syndrome: a case report

Abstract Background Lennox-Gastaut syndrome (LGS) is a severe epileptic encephalopathy that can be caused by brain malformations or genetic mutations. Recently, genome-wide association studies have led to the identification of novel mutations associated with LGS. The TANC2 gene, encodes a synaptic s...

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Autores principales:	Yang Tian, Zhen Shi, Chi Hou, Wenjuan Li, Xiuying Wang, Haixia Zhu, Xiaojing Li, Wen-Xiong Chen
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	TANC2 Epilepsy Lennox-Gastaut syndrome Case report Pediatrics RJ1-570
Acceso en línea:	https://doaj.org/article/c41c125a66124044a264135caf58bafd
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spelling	oai:doaj.org-article:c41c125a66124044a264135caf58bafd2021-12-05T12:21:21ZTruncating mutation in TANC2 in a Chinese boy associated with Lennox-Gastaut syndrome: a case report10.1186/s12887-021-03021-31471-2431https://doaj.org/article/c41c125a66124044a264135caf58bafd2021-12-01T00:00:00Zhttps://doi.org/10.1186/s12887-021-03021-3https://doaj.org/toc/1471-2431Abstract Background Lennox-Gastaut syndrome (LGS) is a severe epileptic encephalopathy that can be caused by brain malformations or genetic mutations. Recently, genome-wide association studies have led to the identification of novel mutations associated with LGS. The TANC2 gene, encodes a synaptic scaffolding protein that interacts with other proteins at the postsynaptic density to regulate dendritic spines and excitatory synapse formation. The TANC2 gene mutations were reported in neurodevelopmental disorders and epilepsy but not in LGS ever. Case presentation Here we describe the case of a boy with LGS who presented with multiple seizure patterns, such as myoclonic, atonic, atypical absence, generalized tonic-clonic, focal seizures, and notable cognitive and motor regression. The seizures were refractory to many antiepileptic drugs. He got seizure-free with ketogenic diet combined with antiepileptic drugs. A de novo nonsense mutation c.4321C > T(p.Gln1441Ter) in TANC2 gene was identified by the whole-exome sequencing and confirmed by Sanger sequencing. Conclusion We described the first Chinese case with LGS associated to a de novo nonsense mutation c.4321C > T(p.Gln1441Ter) in TANC2 gene, which would expand the clinical spectrum related to TANC2 mutations and contribute to better understanding of genotype-phenotype relationship to guide precision medicine.Yang TianZhen ShiChi HouWenjuan LiXiuying WangHaixia ZhuXiaojing LiWen-Xiong ChenBMCarticleTANC2EpilepsyLennox-Gastaut syndromeCase reportPediatricsRJ1-570ENBMC Pediatrics, Vol 21, Iss 1, Pp 1-5 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	TANC2 Epilepsy Lennox-Gastaut syndrome Case report Pediatrics RJ1-570
spellingShingle	TANC2 Epilepsy Lennox-Gastaut syndrome Case report Pediatrics RJ1-570 Yang Tian Zhen Shi Chi Hou Wenjuan Li Xiuying Wang Haixia Zhu Xiaojing Li Wen-Xiong Chen Truncating mutation in TANC2 in a Chinese boy associated with Lennox-Gastaut syndrome: a case report
description	Abstract Background Lennox-Gastaut syndrome (LGS) is a severe epileptic encephalopathy that can be caused by brain malformations or genetic mutations. Recently, genome-wide association studies have led to the identification of novel mutations associated with LGS. The TANC2 gene, encodes a synaptic scaffolding protein that interacts with other proteins at the postsynaptic density to regulate dendritic spines and excitatory synapse formation. The TANC2 gene mutations were reported in neurodevelopmental disorders and epilepsy but not in LGS ever. Case presentation Here we describe the case of a boy with LGS who presented with multiple seizure patterns, such as myoclonic, atonic, atypical absence, generalized tonic-clonic, focal seizures, and notable cognitive and motor regression. The seizures were refractory to many antiepileptic drugs. He got seizure-free with ketogenic diet combined with antiepileptic drugs. A de novo nonsense mutation c.4321C > T(p.Gln1441Ter) in TANC2 gene was identified by the whole-exome sequencing and confirmed by Sanger sequencing. Conclusion We described the first Chinese case with LGS associated to a de novo nonsense mutation c.4321C > T(p.Gln1441Ter) in TANC2 gene, which would expand the clinical spectrum related to TANC2 mutations and contribute to better understanding of genotype-phenotype relationship to guide precision medicine.
format	article
author	Yang Tian Zhen Shi Chi Hou Wenjuan Li Xiuying Wang Haixia Zhu Xiaojing Li Wen-Xiong Chen
author_facet	Yang Tian Zhen Shi Chi Hou Wenjuan Li Xiuying Wang Haixia Zhu Xiaojing Li Wen-Xiong Chen
author_sort	Yang Tian
title	Truncating mutation in TANC2 in a Chinese boy associated with Lennox-Gastaut syndrome: a case report
title_short	Truncating mutation in TANC2 in a Chinese boy associated with Lennox-Gastaut syndrome: a case report
title_full	Truncating mutation in TANC2 in a Chinese boy associated with Lennox-Gastaut syndrome: a case report
title_fullStr	Truncating mutation in TANC2 in a Chinese boy associated with Lennox-Gastaut syndrome: a case report
title_full_unstemmed	Truncating mutation in TANC2 in a Chinese boy associated with Lennox-Gastaut syndrome: a case report
title_sort	truncating mutation in tanc2 in a chinese boy associated with lennox-gastaut syndrome: a case report
publisher	BMC
publishDate	2021
url	https://doaj.org/article/c41c125a66124044a264135caf58bafd
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Truncating mutation in TANC2 in a Chinese boy associated with Lennox-Gastaut syndrome: a case report

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