Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families

被引：26

作者：

Bennett, Mark F. ^{[1
,2
,3
]}

Oliver, Karen L. ^{[1
,3
]}

Regan, Brigid M. ^{[3
]}

Bellows, Susannah T. ^{[3
]}

Schneider, Amy L. ^{[3
]}

Rafehi, Haloom ^{[1
,2
,3
]}

Sikta, Neblina ^{[1
]}

Crompton, Douglas E. ^{[3
,4
]}

Coleman, Matthew ^{[3
]}

Hildebrand, Michael S. ^{[3
,5
]}

Corbett, Mark A. ^{[6
,7
]}

Kroes, Thessa ^{[6
,7
]}

Gecz, Jozef ^{[6
,7
,8
]}

Scheffer, Ingrid E. ^{[3
,5
,9
,10
]}

Berkovic, Samuel F. ^{[3
]}

Bahlo, Melanie ^{[1
,2
]}

机构：

[1] Walter & Eliza Hall Inst Med Res, Populat Hlth & Immun Div, Parkville, Vic 3052, Australia

[2] Univ Melbourne, Dept Med Biol, Parkville, Vic 3052, Australia

[3] Univ Melbourne, Dept Med, Epilepsy Res Ctr, Austin Hlth, Heidelberg, Vic 3084, Australia

[4] Northern Hlth, Neurol Dept, Melbourne, Vic 3076, Australia

[5] Royal Childrens Hosp, Murdoch Childrens Res Inst, Parkville, Vic 3052, Australia

[6] Univ Adelaide, Robinson Res Inst, Adelaide, SA 5005, Australia

[7] Univ Adelaide, Adelaide Med Sch, Adelaide, SA 5005, Australia

[8] South Australian Hlth & Med Res Inst, Adelaide, SA 5000, Australia

[9] Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Parkville, Vic 3052, Australia

[10] Florey Inst, Parkville, Vic 3052, Australia

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2020年 / 28卷 / 07期

基金：

澳大利亚国家健康与医学研究理事会; 英国医学研究理事会;

关键词：

DOMINANT CORTICAL TREMOR; ADCME; LOCUS;

D O I：

10.1038/s41431-020-0606-z

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Familial adult myoclonic epilepsy 1 (FAME1), first recognised in Japanese families, was recently shown to be caused by a TTTCA repeat insertion in intron 4 of SAMD12 on chromosome 8. We performed whole genome sequencing on two families with FAME, one of Sri Lankan origin and the other of Indian origin, and identified a TTTCA repeat insertion in SAMD12 in both families. Haplotype analysis revealed that both families shared the same core ancestral haplotype reported in Japanese and Chinese families with FAME1. Mutation dating, based on the length of shared haplotypes, estimated the age of the ancestral haplotype to be 670 generations, or 17,000 years old. Our data extend the geographic range of this repeat expansion to Southern Asia and potentially implicate an even broader regional distribution given the age of the variant. This finding suggests patients of Asian ancestry with suspected FAME should be screened for the SAMD12 TTTCA expansion.

引用

页码：973 / 978

页数：6

共 20 条

[1]

Bahlo Melanie, 2018, F1000Res, V7, DOI 10.12688/f1000research.13980.1

[2] Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1 [J].

Cen, Zhidong ;

Jiang, Zhengwen ;

Chen, You ;

Zheng, Xiaosheng ;

Xie, Fei ;

Yang, Xiaodong ;

Lu, Xingjiao ;

Ouyang, Zhiyuan ;

Wu, Hongwei ;

Chen, Si ;

Yin, Houmin ;

Qiu, Xia ;

Wang, Shuang ;

Ding, Meiping ;

Tang, Yelei ;

Yu, Feng ;

Li, Caihua ;

Wang, Tao ;

Ishiura, Hiroyuki ;

Tsuji, Shoji ;

Jiao, Chuan ;

Liu, Chunyu ;

Xiao, Jianfeng ;

Luo, Wei .

BRAIN, 2018, 141 :2280-2288

[3] STRetch: detecting and discovering pathogenic short tandem repeat expansions [J].

Dashnow, Harriet ;

Lek, Monkol ;

Phipson, Belinda ;

Halman, Andreas ;

Sadedin, Simon ;

Lonsdale, Andrew ;

Davis, Mark ;

Lamont, Phillipa ;

Clayton, Joshua S. ;

Laing, Nigel G. ;

MacArthur, Daniel G. ;

Oshlack, Alicia .

GENOME BIOLOGY, 2018, 19

[4] Familial cortical myoclonic tremor with epilepsy The third locus (FCMTE3) maps to 5p [J].

Depienne, C. ;

Magnin, E. ;

Bouteiller, D. ;

Stevanin, G. ;

Saint-Martin, C. ;

Vidailhet, M. ;

Apartis, E. ;

Hirsch, E. ;

LeGuern, E. ;

Labauge, P. ;

Rumbach, L. .

NEUROLOGY, 2010, 74 (24) :2000-2003

[5] Detection of long repeat expansions from PCR-free whole-genome sequence data [J].

Dolzhenko, Egor ;

van Vugt, Joke J. F. A. ;

Shaw, Richard J. ;

Bekritsky, Mitchell A. ;

van Blitterswijk, Marka ;

Narzisi, Giuseppe ;

Ajay, Subramanian S. ;

Rajan, Vani ;

Lajoie, Bryan R. ;

Johnson, Nathan H. ;

Kingsbury, Zoya ;

Humphray, Sean J. ;

Schellevis, Raymond D. ;

Brands, William J. ;

Baker, Matt ;

Rademakers, Rosa ;

Kooyman, Maarten ;

Tazelaar, Gijs H. P. ;

van Es, Michael A. ;

McLaughlin, Russell ;

Sproviero, William ;

Shatunov, Aleksey ;

Jones, Ashley ;

Al Khleifat, Ahmad ;

Pittman, Alan ;

Morgan, Sarah ;

Hardiman, Orla ;

Al-Chalabi, Ammar ;

Shaw, Chris ;

Smith, Bradley ;

Neo, Edmund J. ;

Morrison, Karen ;

Shaw, Pamela J. ;

Reeves, Catherine ;

Winterkorn, Lara ;

Wexler, Nancy S. ;

Housman, David E. ;

Ng, Christopher W. ;

Li, Alina L. ;

Taft, Ryan J. ;

van den Berg, Leonard H. ;

Bentley, David R. ;

Veldink, Jan H. ;

Eberle, Michael A. .

GENOME RESEARCH, 2017, 27 (11) :1895-1903

[6] Dating Rare Mutations from Small Samples with Dense Marker Data [J].

Gandolfo, Luke C. ;

Bahlo, Melanie ;

Speed, Terence P. .

GENETICS, 2014, 197 (04) :1315-U437

[7] Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2 [J].

Henden, Lyndal ;

Freytag, Saskia ;

Afawi, Zaid ;

Baldassari, Sara ;

Berkovic, Samuel F. ;

Bisulli, Francesca ;

Canafoglia, Laura ;

Casari, Giorgio ;

Crompton, Douglas Ewan ;

Depienne, Christel ;

Gecz, Jozef ;

Guerrini, Renzo ;

Helbig, Ingo ;

Hirsch, Edouard ;

Keren, Boris ;

Klein, Karl Martin ;

Labauge, Pierre ;

LeGuern, Eric ;

Licchetta, Laura ;

Mei, Davide ;

Nava, Caroline ;

Pippucci, Tommaso ;

Rudolf, Gabrielle ;

Scheffer, Ingrid Eileen ;

Striano, Pasquale ;

Tinuper, Paolo ;

Zara, Federico ;

Corbett, Mark ;

Bahlo, Melanie .

HUMAN GENETICS, 2016, 135 (10) :1117-1125

[8] Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy [J].

Ishiura, Hiroyuki ;

Doi, Koichiro ;

Mitsui, Jun ;

Yoshimura, Jun ;

Matsukawa, Miho Kawabe ;

Fujiyama, Asao ;

Toyoshima, Yasuko ;

Kakita, Akiyoshi ;

Takahashi, Hitoshi ;

Suzuki, Yutaka ;

Sugano, Sumio ;

Qu, Wei ;

Ichikawa, Kazuki ;

Yurino, Hideaki ;

Higasa, Koichiro ;

Shibata, Shota ;

Mitsue, Aki ;

Tanaka, Masaki ;

Ichikawa, Yaeko ;

Takahashi, Yuji ;

Date, Hidetoshi ;

Matsukawa, Takashi ;

Kanda, Junko ;

Nakamoto, Fumiko Kusunoki ;

Higashihara, Mana ;

Abe, Koji ;

Koike, Ryoko ;

Sasagawa, Mutsuo ;

Kuroha, Yasuko ;

Hasegawa, Naoya ;

Kanesawa, Norio ;

Kondo, Takayuki ;

Hitomi, Takefumi ;

Tada, Masayoshi ;

Takano, Hiroki ;

Saito, Yutaka ;

Sanpei, Kazuhiro ;

Onodera, Osamu ;

Nishizawa, Masatoyo ;

Nakamura, Masayuki ;

Yasuda, Takeshi ;

Sakiyama, Yoshio ;

Otsuka, Mieko ;

Ueki, Akira ;

Kaida, Ken-Ichi ;

Shimizu, Jun ;

Hanajima, Ritsuko ;

Hayashi, Toshihiro ;

Terao, Yasuo ;

Inomata-Terada, Satomi .

NATURE GENETICS, 2018, 50 (04) :581-+

[9] TTTCA repeat expansion causes familial cortical myoclonic tremor with epilepsy [J].

Lei, X. X. ;

Liu, Q. ;

Lu, Q. ;

Huang, Y. ;

Zhou, X. Q. ;

Sun, H. Y. ;

Wu, L. W. ;

Cui, L. Y. ;

Zhang, X. .

EUROPEAN JOURNAL OF NEUROLOGY, 2019, 26 (03) :513-518

[10] Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME) in a unique south Indian community [J].

Mahadevan, Radha ;

Viswanathan, Natarajan ;

Shanmugam, Ganesan ;

Sankaralingam, Saravanan ;

Essaki, Bobby ;

Chelladurai, Rachel P. .

EPILEPSIA, 2016, 57 (03) :E56-E59

← 1 2 →