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DOI 10.1038/s41588-018-0067-2

Медицинская библиотека · Nature genetics · 2018

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.

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, Hamada Masashi, Shirota Yuichiro, Kubota Akatsuki, Ugawa Yoshikazu, Koh Kishin, Takiyama Yoshihisa, Ohsawa-Yoshida Natsumi, Ishiura Shoichi, Yamasaki Ryo, Tamaoka Akira, Akiyama Hiroshi, Otsuki Taisuke, Sano Akira, Ikeda Akio, Goto Jun, Morishita Shinichi, Tsuji Shoji

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Аннотация

Epilepsy is a common neurological disorder, and mutations in genes encoding ion channels or neurotransmitter receptors are frequent causes of monogenic forms of epilepsy. Here we show that abnormal expansions of TTTCA and TTTTA repeats in intron 4 of SAMD12 cause benign adult familial myoclonic epilepsy (BAFME). Single-molecule, real-time sequencing of BAC clones and nanopore sequencing of genomic DNA identified two repeat configurations in SAMD12. Intriguingly, in two families with a clinical diagnosis of BAFME in which no repeat expansions in SAMD12 were observed, we identified similar expansions of TTTCA and TTTTA repeats in introns of TNRC6A and RAPGEF2, indicating that expansions of the same repeat motifs are involved in the pathogenesis of BAFME regardless of the genes in which the expanded repeats are located. This discovery that expansions of noncoding repeats lead to neuronal dysfunction responsible for myoclonic tremor and epilepsy extends the understanding of diseases with such repeat expansion.

Для цитирования: 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, Hamada Masashi, Shirota Yuichiro, Kubota Akatsuki, Ugawa Yoshikazu, Koh Kishin, Takiyama Yoshihisa, Ohsawa-Yoshida Natsumi, Ishiura Shoichi, Yamasaki Ryo, Tamaoka Akira, Akiyama Hiroshi, Otsuki Taisuke, Sano Akira, Ikeda Akio, Goto Jun, Morishita Shinichi, Tsuji Shoji. Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.. Nature genetics. 2018. DOI: 10.1038/s41588-018-0067-2.

Предметные рубрики MeSH

AdultAge of OnsetAutoantigensBase SequenceDNA Repeat ExpansionEpilepsies, MyoclonicFemaleGenomic InstabilityGuanine Nucleotide Exchange FactorsHumansIntronsMaleMicrosatellite RepeatsNerve Tissue ProteinsPedigreePurkinje CellsRNA-Binding ProteinsSequence Analysis, DNASterile Alpha Motif
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