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

Background Hereditary 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 cereb...

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Vydáno v:	BMC neurology Ročník 19; číslo 1; s. 157 - 6
Hlavní autoři:	Chen, Jiajun, Sun, Yajuan, Liu, Xiaoyang, Li, Jia
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	London BioMed Central 10.07.2019 BioMed Central Ltd BMC
Témata:	ADCA Adult Asian People Ataxia CACNA1C Calcium channels Calcium Channels, L-Type - genetics Case studies Case-Control Studies Cerebellar ataxia Cerebellar Ataxia - genetics DNA sequencing Epidemiology Familial diseases Family Female Genes Genes, Dominant Genetic aspects Health aspects Hereditary ataxia Humans L-type calcium channel Male Medical genetics Medicine Medicine & Public Health Mutation Nervous system diseases Neurochemistry Neurodegenerative diseases Neurogenetics Neurology Neurosurgery Pedigree Phenotype Physiological aspects Research Article Single nucleotide polymorphisms Spinocerebellar Degenerations - genetics Young Adult China CACNA1C Mutation L-type calcium channel Hereditary ataxia ADCA
ISSN:	1471-2377, 1471-2377
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Popis
Shrnutí:	Background Hereditary 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. Methods A 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. Results The rs779393130 mutation of the CACNA1C gene co-segregated with the ataxia phenotype in this family. The mutation was not detected in 50 unaffected controls. Conclusions The 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.
Bibliografie:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1471-2377 1471-2377
DOI:	10.1186/s12883-019-1381-8