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Authors: Sone, Jun and Mitsuhashi, Satomi and Fujita, Atsushi and Mizuguchi, Takeshi and Mori, Keiko and Koike, Haruki and Hashiguchi, Akihiro and Takashima, Hiroshi and Sugiyama, Hiroshi and Kohno, Yutaka and Takiyama, Yoshihisa and Maeda, Kengo and Doi, Hiroshi and Koyano, Shigeru and Takeuchi, Hideyuki and Kawamoto, Michi and Kohara, Nobuo and Ando, Tetsuo and Ieda, Toshiaki and Kita, Yasushi and Kokubun, Norito and Tsuboi, Yoshio and Katsuno, Masahisa and Iwasaki, Yasushi and Yoshida, Mari and Tanaka, Fumiaki and Suzuki, Ikuo K and Frith, Martin C and Matsumoto, Naomichi and Sobue, Gen

Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in neuronal and somatic cells. The wide range of clinical manifestations in NIID makes ante-mortem diagnosis difficult 1-8, but skin biopsy realized its ante-mortem diagnosis 9,10 and many NIID cases have been diagnosed by skin biopsy11,12. Most cases of NIID are sporadic, but several familial cases are known. Using a large NIID family, we conducted linkage mapping, found a 58.1-Mb linked-region at 1p22.1-q21.3 with a maximum logarithm of odds (LOD) score of 4.21, and successfully identified a GGC repeat expansion in the 5textquoteright portion of NOTCH2NLC in all affected members by long-read sequencing, but not in unaffected members. We further found the similar expansions in additional 8 unrelated families with NIID as well as 39 sporadic NIID patients. Repeat-primed PCR consistently detected the GGC repeat expansion in all the familial and sporadic patients diagnosed by skin biopsy, but never in unaffected family members nor 200 controls. This shows that pathogenic changes in a human-specific gene evolutionarily generated by segmental duplication indeed cause a human disease.

Journal: bioRxiv
DOI: 10.1101/515635
Year: 2019

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