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Intronic (TTTGA)(n) insertion in SAMD12 also causes familial cortical myoclonic tremor with epilepsy

文献类型：期刊论文

作者Cen, Zhidong1,2; Chen, You1,2; Yang, Dehao1,2; Chen, Si1,2; Chen, Xinhui2; Wang, Bo2; Xie, Fei2; Ouyang, Zhiyuan2; Yin, Houmin2; Qiu, Xia2
刊名MOVEMENT DISORDERS
出版日期2019
卷号34期号:10页码:1571-1576
关键词familial cortical myoclonic tremor with epilepsy SAMD12 (TTTGA)(n) insertion long-read sequencing
ISSN号0885-3185
DOI10.1002/mds.27832
文献子类Article
英文摘要Background Intronic (TTTCA)(n) insertions in the SAMD12, TNRC6A, and RAPGEF2 genes have been identified as causes of familial cortical myoclonic tremor with epilepsy. Objective To identify the cause of familial cortical myoclonic tremor with epilepsy pedigrees without (TTTCA)(n) insertions in SAMD12, TNRC6A, and RAPGEF2. Methods Repeat-primed polymerase chain reaction, long-range polymerase chain reaction, and Sanger sequencing were performed to identify the existence of a novel (TTTGA)(n) insertion. Targeted long-read sequencing was performed to confirm the accurate structure of the (TTTGA)(n) insertion. Results We identified a novel expanded intronic (TTTGA)(n) insertion at the same site as the previously reported (TTTCA)(n) insertion in SAMD12. This insertion cosegregated with familial cortical myoclonic tremor with epilepsy in 1 Chinese pedigree with no (TTTCA)(n) insertion. In the targeted long-read sequencing of 2 patients and 1 asymptomatic carrier in this pedigree, with 1 previously reported (TTTCA)(n)-insertion-carrying patient as a positive control, a respective total of 302, 159, 207, and 50 on-target subreads (predicated accuracy: >= 90%) spanning the target repeat expansion region were generated. These sequencing data revealed the accurate repeat expansion structures as (TTTTA)(114-123)(TTTGA)(108-116) in the pedigree and (TTTTA)(38)(TTTCA)(479) in (TTTCA)(n)-insertion-carrying patient. Conclusion The targeted long-read sequencing helped us to elucidate the accurate structures of the (TTTGA)(n) and (TTTCA)(n) insertions. Our finding offers a novel possible cause for familial cortical myoclonic tremor with epilepsy and might shed light on the identification of genetic causes of this disease in pedigrees with no detected (TTTCA)(n) insertion in the reported causative genes. (c) 2019 International Parkinson and Movement Disorder Society
学科主题Biochemistry & Molecular Biology ; Endocrinology & Metabolism
WOS关键词LOCALIZATION ; LOCUS ; FAME ; GENE
语种英语
CSCD记录号CSCD:31483537
WOS记录号WOS:000491128100024
出版者WILEY
版本出版稿
源URL[http://202.127.25.144/handle/331004/1220]  
专题中国科学院上海生命科学研究院营养科学研究所
作者单位1.Zhejiang Univ, Affiliated Hosp 2, Key Lab Canc Prevent & Intervent, Canc Inst,China Natl Minist Educ,Sch Med, Hangzhou, Zhejiang, Peoples R China;
2.Zhejiang Univ, Affiliated Hosp 2, Dept Neurol, Sch Med, 88 Jiefang Rd, Hangzhou 310009, Zhejiang, Peoples R China;
3.Univ Chinese Acad Sci, CAS Key Lab Tissue Microenvironm & Tumor, Chinese Acad Sci, Shanghai Inst Nutr & Hlth,Shanghai Inst Biol Sci, Shanghai, Peoples R China;
4.Zhejiang Univ, Sir Run Run Shaw Hosp, Dept Neurol, Sch Med, Hangzhou, Zhejiang, Peoples R China;
5.Genesky Diagnost Inc, Biobay, SIP, Suzhou, Jiangsu, Peoples R China;
6.Minist Educ, Key Lab Combinatorial Biosynth & Drug Discovery, Wuhan, Hubei, Peoples R China;
7.Wuhan Univ, Sch Pharmaceut Sci, Wuhan, Hubei, Peoples R China;
8.Human Hosp, Dept Neurosurg, Epilepsy Ctr, Xiamen, Fujian, Peoples R China;
9.Shanxi Med Univ, Dept Neurol, Hosp 2, Taiyuan, Shanxi, Peoples R China;
10.Shanxi Med Univ, Inst Epilepsy, Taiyuan, Shanxi, Peoples R China;
推荐引用方式
GB/T 7714		 Cen, Zhidong,Chen, You,Yang, Dehao,et al. Intronic (TTTGA)(n) insertion in SAMD12 also causes familial cortical myoclonic tremor with epilepsy[J]. MOVEMENT DISORDERS,2019,34(10):1571-1576.
APA Cen, Zhidong.,Chen, You.,Yang, Dehao.,Chen, Si.,Chen, Xinhui.,...&,.(2019).Intronic (TTTGA)(n) insertion in SAMD12 also causes familial cortical myoclonic tremor with epilepsy.MOVEMENT DISORDERS,34(10),1571-1576.
MLA Cen, Zhidong,et al."Intronic (TTTGA)(n) insertion in SAMD12 also causes familial cortical myoclonic tremor with epilepsy".MOVEMENT DISORDERS 34.10(2019):1571-1576.

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来源：上海营养与健康研究所

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