Staff View: Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

Noncoding repeat expansions cause various neuromuscular diseases, including myotonic dystrophies, fragile X tremor/ataxia syndrome, some spinocerebellar ataxias, amyotrophic lateral sclerosis and benign adult familial myoclonic epilepsies. Inspired by the striking similarities in the clinical and ne...

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Main Authors:	Ishiura, Hiroyuki, Shibata, Shota, Yoshimura, Jun, Suzuki, Yuta, Qu, Wei, Doi, Koichiro, Almansour, M. Asem, Kikuchi, Junko Kanda, Taira, Makiko, Mitsui, Jun, Takahashi, Yuji, Ichikawa, Yaeko, Mano, Tatsuo, Iwata, Atsushi, Harigaya, Yasuo, Matsukawa, Miho Kawabe, Matsukawa, Takashi, Tanaka, Masaki, Shirota, Yuichiro, Ohtomo, Ryo, Kowa, Hisatomo, Date, Hidetoshi, Mitsue, Aki, Hatsuta, Hiroyuki, Morimoto, Satoru, Murayama, Shigeo, Shiio, Yasushi, Saito, Yuko, Mitsutake, Akihiko, Kawai, Mizuho, Sasaki, Takuya, Sugiyama, Yusuke, Hamada, Masashi, Ohtomo, Gaku, Terao, Yasuo, Nakazato, Yoshihiko, Takeda, Akitoshi, Sakiyama, Yoshio, Umeda-Kameyama, Yumi, Shinmi, Jun, Ogata, Katsuhisa, Kohno, Yutaka, Lim, Shen Yang, Tan, Ai Huey, Shimizu, Jun, Goto, Jun, Nishino, Ichizo, Toda, Tatsushi, Morishita, Shinichi, Tsuji, Shoji
Format:	Article
Published:	Nature Research 2019
Subjects:	R Medicine
Online Access:	http://eprints.um.edu.my/24092/ https://doi.org/10.1038/s41588-019-0458-z
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spelling	my.um.eprints.240922020-03-22T11:42:02Z http://eprints.um.edu.my/24092/ Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease Ishiura, Hiroyuki Shibata, Shota Yoshimura, Jun Suzuki, Yuta Qu, Wei Doi, Koichiro Almansour, M. Asem Kikuchi, Junko Kanda Taira, Makiko Mitsui, Jun Takahashi, Yuji Ichikawa, Yaeko Mano, Tatsuo Iwata, Atsushi Harigaya, Yasuo Matsukawa, Miho Kawabe Matsukawa, Takashi Tanaka, Masaki Shirota, Yuichiro Ohtomo, Ryo Kowa, Hisatomo Date, Hidetoshi Mitsue, Aki Hatsuta, Hiroyuki Morimoto, Satoru Murayama, Shigeo Shiio, Yasushi Saito, Yuko Mitsutake, Akihiko Kawai, Mizuho Sasaki, Takuya Sugiyama, Yusuke Hamada, Masashi Ohtomo, Gaku Terao, Yasuo Nakazato, Yoshihiko Takeda, Akitoshi Sakiyama, Yoshio Umeda-Kameyama, Yumi Shinmi, Jun Ogata, Katsuhisa Kohno, Yutaka Lim, Shen Yang Tan, Ai Huey Shimizu, Jun Goto, Jun Nishino, Ichizo Toda, Tatsushi Morishita, Shinichi Tsuji, Shoji R Medicine Noncoding repeat expansions cause various neuromuscular diseases, including myotonic dystrophies, fragile X tremor/ataxia syndrome, some spinocerebellar ataxias, amyotrophic lateral sclerosis and benign adult familial myoclonic epilepsies. Inspired by the striking similarities in the clinical and neuroimaging findings between neuronal intranuclear inclusion disease (NIID) and fragile X tremor/ataxia syndrome caused by noncoding CGG repeat expansions in FMR1, we directly searched for repeat expansion mutations and identified noncoding CGG repeat expansions in NBPF19 (NOTCH2NLC) as the causative mutations for NIID. Further prompted by the similarities in the clinical and neuroimaging findings with NIID, we identified similar noncoding CGG repeat expansions in two other diseases: oculopharyngeal myopathy with leukoencephalopathy and oculopharyngodistal myopathy, in LOC642361/NUTM2B-AS1 and LRP12, respectively. These findings expand our knowledge of the clinical spectra of diseases caused by expansions of the same repeat motif, and further highlight how directly searching for expanded repeats can help identify mutations underlying diseases. © 2019, The Author(s), under exclusive licence to Springer Nature America, Inc. Nature Research 2019 Article PeerReviewed Ishiura, Hiroyuki and Shibata, Shota and Yoshimura, Jun and Suzuki, Yuta and Qu, Wei and Doi, Koichiro and Almansour, M. Asem and Kikuchi, Junko Kanda and Taira, Makiko and Mitsui, Jun and Takahashi, Yuji and Ichikawa, Yaeko and Mano, Tatsuo and Iwata, Atsushi and Harigaya, Yasuo and Matsukawa, Miho Kawabe and Matsukawa, Takashi and Tanaka, Masaki and Shirota, Yuichiro and Ohtomo, Ryo and Kowa, Hisatomo and Date, Hidetoshi and Mitsue, Aki and Hatsuta, Hiroyuki and Morimoto, Satoru and Murayama, Shigeo and Shiio, Yasushi and Saito, Yuko and Mitsutake, Akihiko and Kawai, Mizuho and Sasaki, Takuya and Sugiyama, Yusuke and Hamada, Masashi and Ohtomo, Gaku and Terao, Yasuo and Nakazato, Yoshihiko and Takeda, Akitoshi and Sakiyama, Yoshio and Umeda-Kameyama, Yumi and Shinmi, Jun and Ogata, Katsuhisa and Kohno, Yutaka and Lim, Shen Yang and Tan, Ai Huey and Shimizu, Jun and Goto, Jun and Nishino, Ichizo and Toda, Tatsushi and Morishita, Shinichi and Tsuji, Shoji (2019) Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. Nature Genetics, 51 (8). pp. 1222-1232. ISSN 1061-4036 https://doi.org/10.1038/s41588-019-0458-z doi:10.1038/s41588-019-0458-z
institution	Universiti Malaya
building	UM Library
collection	Institutional Repository
continent	Asia
country	Malaysia
content_provider	Universiti Malaya
content_source	UM Research Repository
url_provider	http://eprints.um.edu.my/
topic	R Medicine
spellingShingle	R Medicine Ishiura, Hiroyuki Shibata, Shota Yoshimura, Jun Suzuki, Yuta Qu, Wei Doi, Koichiro Almansour, M. Asem Kikuchi, Junko Kanda Taira, Makiko Mitsui, Jun Takahashi, Yuji Ichikawa, Yaeko Mano, Tatsuo Iwata, Atsushi Harigaya, Yasuo Matsukawa, Miho Kawabe Matsukawa, Takashi Tanaka, Masaki Shirota, Yuichiro Ohtomo, Ryo Kowa, Hisatomo Date, Hidetoshi Mitsue, Aki Hatsuta, Hiroyuki Morimoto, Satoru Murayama, Shigeo Shiio, Yasushi Saito, Yuko Mitsutake, Akihiko Kawai, Mizuho Sasaki, Takuya Sugiyama, Yusuke Hamada, Masashi Ohtomo, Gaku Terao, Yasuo Nakazato, Yoshihiko Takeda, Akitoshi Sakiyama, Yoshio Umeda-Kameyama, Yumi Shinmi, Jun Ogata, Katsuhisa Kohno, Yutaka Lim, Shen Yang Tan, Ai Huey Shimizu, Jun Goto, Jun Nishino, Ichizo Toda, Tatsushi Morishita, Shinichi Tsuji, Shoji Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
description	Noncoding repeat expansions cause various neuromuscular diseases, including myotonic dystrophies, fragile X tremor/ataxia syndrome, some spinocerebellar ataxias, amyotrophic lateral sclerosis and benign adult familial myoclonic epilepsies. Inspired by the striking similarities in the clinical and neuroimaging findings between neuronal intranuclear inclusion disease (NIID) and fragile X tremor/ataxia syndrome caused by noncoding CGG repeat expansions in FMR1, we directly searched for repeat expansion mutations and identified noncoding CGG repeat expansions in NBPF19 (NOTCH2NLC) as the causative mutations for NIID. Further prompted by the similarities in the clinical and neuroimaging findings with NIID, we identified similar noncoding CGG repeat expansions in two other diseases: oculopharyngeal myopathy with leukoencephalopathy and oculopharyngodistal myopathy, in LOC642361/NUTM2B-AS1 and LRP12, respectively. These findings expand our knowledge of the clinical spectra of diseases caused by expansions of the same repeat motif, and further highlight how directly searching for expanded repeats can help identify mutations underlying diseases. © 2019, The Author(s), under exclusive licence to Springer Nature America, Inc.
format	Article
author	Ishiura, Hiroyuki Shibata, Shota Yoshimura, Jun Suzuki, Yuta Qu, Wei Doi, Koichiro Almansour, M. Asem Kikuchi, Junko Kanda Taira, Makiko Mitsui, Jun Takahashi, Yuji Ichikawa, Yaeko Mano, Tatsuo Iwata, Atsushi Harigaya, Yasuo Matsukawa, Miho Kawabe Matsukawa, Takashi Tanaka, Masaki Shirota, Yuichiro Ohtomo, Ryo Kowa, Hisatomo Date, Hidetoshi Mitsue, Aki Hatsuta, Hiroyuki Morimoto, Satoru Murayama, Shigeo Shiio, Yasushi Saito, Yuko Mitsutake, Akihiko Kawai, Mizuho Sasaki, Takuya Sugiyama, Yusuke Hamada, Masashi Ohtomo, Gaku Terao, Yasuo Nakazato, Yoshihiko Takeda, Akitoshi Sakiyama, Yoshio Umeda-Kameyama, Yumi Shinmi, Jun Ogata, Katsuhisa Kohno, Yutaka Lim, Shen Yang Tan, Ai Huey Shimizu, Jun Goto, Jun Nishino, Ichizo Toda, Tatsushi Morishita, Shinichi Tsuji, Shoji
author_facet	Ishiura, Hiroyuki Shibata, Shota Yoshimura, Jun Suzuki, Yuta Qu, Wei Doi, Koichiro Almansour, M. Asem Kikuchi, Junko Kanda Taira, Makiko Mitsui, Jun Takahashi, Yuji Ichikawa, Yaeko Mano, Tatsuo Iwata, Atsushi Harigaya, Yasuo Matsukawa, Miho Kawabe Matsukawa, Takashi Tanaka, Masaki Shirota, Yuichiro Ohtomo, Ryo Kowa, Hisatomo Date, Hidetoshi Mitsue, Aki Hatsuta, Hiroyuki Morimoto, Satoru Murayama, Shigeo Shiio, Yasushi Saito, Yuko Mitsutake, Akihiko Kawai, Mizuho Sasaki, Takuya Sugiyama, Yusuke Hamada, Masashi Ohtomo, Gaku Terao, Yasuo Nakazato, Yoshihiko Takeda, Akitoshi Sakiyama, Yoshio Umeda-Kameyama, Yumi Shinmi, Jun Ogata, Katsuhisa Kohno, Yutaka Lim, Shen Yang Tan, Ai Huey Shimizu, Jun Goto, Jun Nishino, Ichizo Toda, Tatsushi Morishita, Shinichi Tsuji, Shoji
author_sort	Ishiura, Hiroyuki
title	Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
title_short	Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
title_full	Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
title_fullStr	Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
title_full_unstemmed	Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
title_sort	noncoding cgg repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
publisher	Nature Research
publishDate	2019
url	http://eprints.um.edu.my/24092/ https://doi.org/10.1038/s41588-019-0458-z
_version_	1662755221873360896
score	13.211869

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

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