Identification of a novel CACNA1A mutation in a Chinese family with autosomal recessive progressive myoclonic epilepsy

Yudan Lv, Zan Wang, Chang Liu, Li Cui Department of Neurology, Department of Neurology and Neuroscience Center, The First Hospital of Jilin University, Changchun, People’s Republic of China Background: Progressive myoclonic epilepsy (PME) is a heterogeneous neurodegenerative dis...

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Autores principales:	Lv YD, Wang Z, Liu C, Cui L
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2017
Materias:	CACNA1A PME exome sequencing myoclonus muscular hypotonia Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/d4a3c10ff01b463e8d1bd53a40202652
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spelling	oai:doaj.org-article:d4a3c10ff01b463e8d1bd53a402026522021-12-02T07:18:58ZIdentification of a novel CACNA1A mutation in a Chinese family with autosomal recessive progressive myoclonic epilepsy1178-2021https://doaj.org/article/d4a3c10ff01b463e8d1bd53a402026522017-10-01T00:00:00Zhttps://www.dovepress.com/identification-of-a-novel-cacna1a-mutation-in-a-chinese-family-with-au-peer-reviewed-article-NDThttps://doaj.org/toc/1178-2021Yudan Lv, Zan Wang, Chang Liu, Li Cui Department of Neurology, Department of Neurology and Neuroscience Center, The First Hospital of Jilin University, Changchun, People’s Republic of China Background: Progressive myoclonic epilepsy (PME) is a heterogeneous neurodegenerative disorder, which is commonly manifested with refractory seizures and neurologic deterioration. The prognosis of PME is poor, so early diagnosis of PME is critical. The aim of our study is to identify the novel pathogenic gene in a Chinese family with PME, which may be helpful in future. Subjects and methods: A three-generation consanguineous Chinese Han family with PME was recruited. A novel homozygous variant was identified by the genetic technique of exome sequencing and certificated by Sanger sequencing and functional prediction. Results: A novel homozygous variant, c.6975_6976insCAG, in the CACNA1A was identified in the PME family. The novel variant encoding the alpha-1A subunit of the calcium channel Cav2.1 was found in two siblings in the Chinese family and was absent in 50 normal controls. Our research indicates that the homozygous c.6975_6976insCAG might be the pathogenic mutation for PME. Conclusion: As a molecular diagnostic strategy, our research explores the mutation gene spectrum of PME and has resulted in significant predictions for genetic counseling. Keywords: CACNA1A, PME, exome sequencing, myoclonus, muscular hypotonia Lv YDWang ZLiu CCui LDove Medical PressarticleCACNA1APMEexome sequencingmyoclonusmuscular hypotoniaNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571Neurology. Diseases of the nervous systemRC346-429ENNeuropsychiatric Disease and Treatment, Vol Volume 13, Pp 2631-2636 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	CACNA1A PME exome sequencing myoclonus muscular hypotonia Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
spellingShingle	CACNA1A PME exome sequencing myoclonus muscular hypotonia Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429 Lv YD Wang Z Liu C Cui L Identification of a novel CACNA1A mutation in a Chinese family with autosomal recessive progressive myoclonic epilepsy
description	Yudan Lv, Zan Wang, Chang Liu, Li Cui Department of Neurology, Department of Neurology and Neuroscience Center, The First Hospital of Jilin University, Changchun, People’s Republic of China Background: Progressive myoclonic epilepsy (PME) is a heterogeneous neurodegenerative disorder, which is commonly manifested with refractory seizures and neurologic deterioration. The prognosis of PME is poor, so early diagnosis of PME is critical. The aim of our study is to identify the novel pathogenic gene in a Chinese family with PME, which may be helpful in future. Subjects and methods: A three-generation consanguineous Chinese Han family with PME was recruited. A novel homozygous variant was identified by the genetic technique of exome sequencing and certificated by Sanger sequencing and functional prediction. Results: A novel homozygous variant, c.6975_6976insCAG, in the CACNA1A was identified in the PME family. The novel variant encoding the alpha-1A subunit of the calcium channel Cav2.1 was found in two siblings in the Chinese family and was absent in 50 normal controls. Our research indicates that the homozygous c.6975_6976insCAG might be the pathogenic mutation for PME. Conclusion: As a molecular diagnostic strategy, our research explores the mutation gene spectrum of PME and has resulted in significant predictions for genetic counseling. Keywords: CACNA1A, PME, exome sequencing, myoclonus, muscular hypotonia
format	article
author	Lv YD Wang Z Liu C Cui L
author_facet	Lv YD Wang Z Liu C Cui L
author_sort	Lv YD
title	Identification of a novel CACNA1A mutation in a Chinese family with autosomal recessive progressive myoclonic epilepsy
title_short	Identification of a novel CACNA1A mutation in a Chinese family with autosomal recessive progressive myoclonic epilepsy
title_full	Identification of a novel CACNA1A mutation in a Chinese family with autosomal recessive progressive myoclonic epilepsy
title_fullStr	Identification of a novel CACNA1A mutation in a Chinese family with autosomal recessive progressive myoclonic epilepsy
title_full_unstemmed	Identification of a novel CACNA1A mutation in a Chinese family with autosomal recessive progressive myoclonic epilepsy
title_sort	identification of a novel cacna1a mutation in a chinese family with autosomal recessive progressive myoclonic epilepsy
publisher	Dove Medical Press
publishDate	2017
url	https://doaj.org/article/d4a3c10ff01b463e8d1bd53a40202652
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_version_	1718399545580191744

Identification of a novel CACNA1A mutation in a Chinese family with autosomal recessive progressive myoclonic epilepsy

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