New repeat expansion diseases and long-read sequencing

Hiroyuki Ishiura¹⁾²⁾

¹⁾Department of Neurology, Graduate School of Medicine, The University of Tokyo
²⁾Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University

We identified that expanded TTTCA and TTTTA repeats in either SAMD12, TNRC6A, or RAPGEF2 cause benign adult familial myoclonus epilepsy （BAFME）.　Furtheromre, the finding of repeat motif-phenotype correlation indicates that repeat motifs themselves, rather than the function of each gene, are strongly involved in the pathogenesis of BAFME.　Given the idea, we then identified expanded CGG repeats in NOTCH2NLC, LOC642361/NUTM2B-AS1, LRP12 in patients with neuronal intranuclear inclusion disease （NIID）, oculopharyngeal myopathy with leukoencephalopathy （OPML）, and oculopharyngodistal myopathy （OPDM）.　Here, our work regarding repeat expansions are reviewed.

Address correspondence to Dr. Hiroyuki Ishiura, Department of Neurology, Graduate School of Medicine, The University of Tokyo（7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan）, Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University（2-5-1 Shikata-cho, Kita-ku, Okayama 700-8558, Japan）