在日本多系统蛋白病患者中鉴定出两种新型错义变体。

Inoue Michio, Iida Aritoshi, Hayashi Shinichiro, Mori-Yoshimura Madoka, Nagaoka Atsushi, Yoshimura Shunsuke, Shiraishi Hirokazu, Tsujino Akira, Takahashi Yuji, Nonaka Ikuya, Hayashi Yukiko K, Noguchi Satoru, Nishino Ichizo

1Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, 187-8551 Japan.

2Integrated Graduate School of Medicine, Engineering, and Agricultural Science, University of Yamanashi, Yamanashi, 409-3898 Japan.

Hum Genome Var. 2018 May 30;5:9. doi: 10.1038/s41439-018-0009-7. eCollection 2018.

mutations were first associated with inclusion body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD) but was later associated with amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease. Now, a new name, "multisystem proteinopathy (MSP)", is proposed for this condition. encodes valosin-containing protein, which is involved in protein degradation in the ubiquitin proteasome system. We report here two MSP patients with two novel heterozygous missense variants in : c.259G>T (p.Val87Phe) and c.376A>G (p.Ile126Val).

突变最初与伴有骨Paget病和额颞叶痴呆的包涵体肌病（IBMPFD）相关，但后来又与肌萎缩侧索硬化症和夏科-马里-图斯病相关。现在，针对这种病症提出了一个新名称，即“多系统蛋白病（MSP）”。编码含缬酪肽蛋白，该蛋白参与泛素蛋白酶体系统中的蛋白质降解。我们在此报告两名MSP患者，其存在两个新的杂合错义变体：c.259G>T（p.Val87Phe）和c.376A>G（p.Ile126Val）。