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Identification of a novel mutation in the CACNA1C gene in a Chinese family with autosomal dominant cerebellar ataxia 期刊论文

编号：

79dac997-2bdb-45e7-b4f7-faef14be1f35
作者：

Chen, Jiajun(陈加俊)#^[1]Sun, Yajuan(孙亚娟)^[1]Liu, Xiaoyang(刘晓阳)^[1]Li, Jia(李佳)*^[1]
语种：

英文
期刊：

BMC NEUROLOGY ISSN：1471-2377 2019 年 19 卷 ; JUL 10
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关键词：

Hereditary ataxia ADCA L-type calcium channel CACNA1C Mutation
摘要：

BackgroundHereditary ataxia is a group of neurodegenerative diseases with progressive cerebellar ataxia of the gait and limbs as the main symptoms. The genetic patterns of the disease are diverse but it is mainly divided into autosomal dominant cerebellar ataxia (ADCA) and autosomal recessive cerebellar ataxia (ARCA), and about 45 pathogenic loci have been found in ADCA. The purpose of this study was to explore the genetic defect in a Chinese family with ADCA.MethodsA three-generation Chinese family with ADCA was enrolled in this study, Exome sequencing was conducted in four family members, including the proband, and verified by Sanger sequencing.ResultsThe rs779393130 mutation of the CACNA1C gene co-segregated with the ataxia phenotype in this family. The mutation was not detected in 50 unaffected controls.ConclusionsThe rs779393130 mutation of CACNA1C may be associated with the phenotype of the disease. The CACNA1C gene encodes the Cav1.2 (alpha-1) subunit of an L-type calcium channel and this subunit may be related to the ADCA phenotype. These findings may have implications for family clinical monitoring and genetic counseling and may also help in understanding pathogenesis of this disease.
推荐引用方式
GB/T 7714：

Chen Jiajun,Sun Yajuan,Liu Xiaoyang, et al. Identification of a novel mutation in the CACNA1C gene in a Chinese family with autosomal dominant cerebellar ataxia [J].BMC NEUROLOGY,2019,19.
APA：

Chen Jiajun,Sun Yajuan,Liu Xiaoyang,Li Jia.(2019).Identification of a novel mutation in the CACNA1C gene in a Chinese family with autosomal dominant cerebellar ataxia .BMC NEUROLOGY,19.
MLA：

Chen Jiajun, et al. "Identification of a novel mutation in the CACNA1C gene in a Chinese family with autosomal dominant cerebellar ataxia" .BMC NEUROLOGY 19(2019).
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