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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doaj-d4a3c10ff01b463e8d1bd53a402026522020-11-24T20:58:39ZengDove Medical PressNeuropsychiatric Disease and Treatment1178-20212017-10-01Volume 132631263635239Identification of a novel CACNA1A mutation in a Chinese family with autosomal recessive progressive myoclonic epilepsyLv YDWang ZLiu CCui LYudan 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 https://www.dovepress.com/identification-of-a-novel-cacna1a-mutation-in-a-chinese-family-with-au-peer-reviewed-article-NDTCACNA1APMEexome sequencingmyoclonusmuscular hypotonia |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Lv YD Wang Z Liu C Cui L |
spellingShingle |
Lv YD Wang Z Liu C Cui L Identification of a novel CACNA1A mutation in a Chinese family with autosomal recessive progressive myoclonic epilepsy Neuropsychiatric Disease and Treatment CACNA1A PME exome sequencing myoclonus muscular hypotonia |
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 |
series |
Neuropsychiatric Disease and Treatment |
issn |
1178-2021 |
publishDate |
2017-10-01 |
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 |
topic |
CACNA1A PME exome sequencing myoclonus muscular hypotonia |
url |
https://www.dovepress.com/identification-of-a-novel-cacna1a-mutation-in-a-chinese-family-with-au-peer-reviewed-article-NDT |
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