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Identification of a novel mutation in PLA2G6 gene in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy

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收录情况： ◇ SCIE

作者：
Lehong Gao[a] * ; Liping Li[a] ; Jing Ye[a] ; Xilin Zhu[b] ; Ning Shen[b] ; Xiating Zhang[a] ; Dequan Wang[a] ; Yu Gao[a] ; Hua Lin[a] ; Yuping Wang[a,*1] ; Ying Liu[b,*2] ;
机构： [a]Department of Neurology, Xuanwu Hospital, Capital Medical University, The Beijing Key Laboratory of Neuromodulation, Beijing 100053, China [b]State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, Beijing 100101, China
出处：
DOI： 10.1016/j.seizure.2016.07.013
ISSN：

关键词： Cortical myoclonic tremor with epilepsy PLA2G6 Whole-exome sequencing

摘要：
Purpose: Familial cortical myoclonic tremor with epilepsy (FCMTE) is an epileptic syndrome with autosomal dominant inheritance, of which four genetic subtypes (FCMTEI-4) have been reported. In the present study, we described the clinical and neurophysiologic features of a newly diagnosed Chinese FCMTE family, and investigated the genetic cause for this disease. Methods: Clinical information was obtained from affected and normal individuals of an FCMTE family comprising 41 members. Electroencephalographies were analyzed in five of six affected members (including the proband). Brain magnetic resonance imaging, somatosensory evoked potential with C reflex analysis and magnetoencephalokraphy was performed in the proband. Genomic DNA of three affected and two unaffected individuals was analyzed to detect the genetic mutations by using wholeexome sequencing. Results: The inheritance pattern of the pedigree was autosomal dominant. A novel missense mutation c.475C >T (p.A1a159Thr) of PLA2G6 were identified in this family. The mutated locus is highly conserved among other species. The mutation is predicted to have a functional impact, and completely co-segregated with the phenotype. Conclusion: This study identifies a novel PLA2G6 mutation that is the possible genetic cause of FCMTE in this family. This mutation and associated clinical features expand the spectrum and phenotypes of PLA2G6-related disorders including neurodegenerative diseases. (C) 2016 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

基金：
the Capital Characteristic Special Key Projects (Z121107001012007), Sail Plan (XMLX201401), the National 863 Project (2015AA020514).
语种：
外文
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PubmedID：
中科院(CAS)分区：
出版当年[2015]版：
大类 | 4 区 医学
小类 | 4 区 临床神经病学 4 区 神经科学
最新[2023]版：
大类 | 3 区 医学
小类 | 3 区 临床神经病学 3 区 神经科学
JCR分区：
出版当年[2014]版：
Q3 NEUROSCIENCES Q3 CLINICAL NEUROLOGY
最新[2023]版：
Q2 CLINICAL NEUROLOGY Q3 NEUROSCIENCES

影响因子： 最新[2023版] 最新五年平均 出版当年[2014版] 出版当年五年平均 出版前一年[2013版] 出版后一年[2015版]

第一作者：
第一作者机构： [a]Department of Neurology, Xuanwu Hospital, Capital Medical University, The Beijing Key Laboratory of Neuromodulation, Beijing 100053, China
通讯作者：
通讯机构： [*1]Department of Neurology, Xuanwu Hospital, Capital Medical University, 45 Changchun Street, Beijing 100053, China [*2]State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5 Dongdan 3 Tiao, Beijing 100101, China
推荐引用方式(GB/T 7714)：
Lehong Gao,Liping Li,Jing Ye,et al.Identification of a novel mutation in PLA2G6 gene in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy[J].SEIZURE-EUROPEAN JOURNAL OF EPILEPSY.2016,41:81-85.doi:10.1016/j.seizure.2016.07.013.
APA：
Lehong Gao,Liping Li,Jing Ye,Xilin Zhu,Ning Shen...&Ying Liu.(2016).Identification of a novel mutation in PLA2G6 gene in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy.SEIZURE-EUROPEAN JOURNAL OF EPILEPSY,41,
MLA：
Lehong Gao,et al."Identification of a novel mutation in PLA2G6 gene in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy".SEIZURE-EUROPEAN JOURNAL OF EPILEPSY 41.(2016):81-85

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