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Authors: 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

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.

Journal: Nature genetics
DOI: 10.1038/s41588-019-0458-z
Year: 2019

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