详情页 - 首都医科大学宣武医院知识库

当前位置：首页 > 详情页

Whole exome sequencing reveals novel NOV and DCAF13 variants in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy

文献详情

资源类型：

WOS体系：

收录情况： ◇ SCIE

作者：

机构： [a]Department of Neurology, XuanWu Hospital, Capital Medical University, Beijing, China [b]Departments of Neurology, Vanderbilt University Medical Center, Nashville, TN USA [c]Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, TN USA [d]Pharmacology, Vanderbilt University Medical Center, Nashville, TN USA [e]Division of Epidemiology, Departments of Medicine, Vanderbilt University Medical Center Nashville, TN USA [f]HudsonAlpha Institute for Biotechnology, Huntsville, AL USA

出处：

DOI：

ISSN：

关键词： Cortical tremor Familial cortical myoclonic tremor and epilepsy DCAF13 NOV

摘要：

Objective: We report a large new family of familial cortical myoclonic tremor with epilepsy(FCMTE) from China and identify the possible causative gene(s) for the family. Method: Whole exome sequencing of blood genomic DNA from 4 patients and 2 unaffected family members were performed. Detected variants and their cosegregation were confirmed by Sanger sequencing. Results: We identified c.20 G > C variant in the DCAF13 gene and c.983 T > C variant in the NOV gene cosegregating in the family. There was no additional cross-over in the family to narrow to one gene. The two DCAF13 and NOV gene variants are located on 8q23.3 and 8q24.12, which is consistent with the location 8q23.3-q24.13 reported previously for a group of Japanese families. The DCAF13 variant is located in alternative transcription start site(TSS) and the function of alternative TSS is unknown. The missense NOV variant is near the C terminus in a site that is highly conserved across species. It was predicted to be deleterious on protein function. Conclusions: In this study, we identify two novel variants in the DCAF13 and NOV genes associated with FCMTE in Asian populations. The interval between two variants is 15.6Mb, which is very close to each other. Future studies of additional families with this phenotype are warranted to confirm whether it is rare bigenic or monogenic inheritance.

语种：

被引次数：

WOS：

PubmedID：

中科院(CAS)分区：

出版当年[2017]版：

大类 | 4 区医学

小类 | 4 区神经科学

最新[2023]版：

大类 | 4 区医学

小类 | 4 区神经科学

JCR分区：

出版当年[2016]版：

Q3 NEUROSCIENCES

最新[2023]版：

Q3 NEUROSCIENCES

影响因子： 2.5 最新[2023版] 2.5 最新五年平均 2.18 出版当年[2016版] 2.129 出版当年五年平均 2.107 出版前一年[2015版] 2.159 出版后一年[2017版]

第一作者：

第一作者机构： [a]Department of Neurology, XuanWu Hospital, Capital Medical University, Beijing, China

通讯作者：

通讯机构： [a]Department of Neurology, XuanWu Hospital, Capital Medical University, Beijing, China [b]Departments of Neurology, Vanderbilt University Medical Center, Nashville, TN USA [c]Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, TN USA [d]Pharmacology, Vanderbilt University Medical Center, Nashville, TN USA

推荐引用方式(GB/T 7714)：

APA：

MLA：

相关文献

[1]WHOLE EXOME SEQUENCING REVEALS NOVEL NOV AND DCAF13 MUTATIONS IN A CHINESE PEDIGREE WITH FAMILIAL CORTICAL MYOCLONIC TREMOR WITH EPILEPSY [2]WHOLE EXOME SEQUENCING REVEALS NOVEL NOV AND DCAF13 MUTATIONS IN A CHINESE PEDIGREE WITH FAMILIAL CORTICAL MYOCLONIC TREMOR WITH EPILEPSY [3]Whole exome sequencing reveals novel NOV and DCAF13 mutations in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy [4]Comprehensive genetic, clinical and electrophysiological studies of familial cortical myoclonic tremor with epilepsy 1 highlight the role of gene configurations [5]家族性皮质肌阵挛震颤伴癫痫家系的运动皮质兴奋性观察 [6]Identification of a novel mutation in PLA2G6 gene in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy [7]Marking Nov 12, 2010-World Pneumonia Day Where are we, where are vaccines? [8]我院2007年11月～2008年10月246例药品不良反应报告分析 [9]高龄病人麻醉监测规范 [10]