Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy

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

doi:10.1038/s41439-018-0009-7

Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy

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

Authors

Affiliations

¹ 1Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, 187-8551 Japan.
² 2Integrated Graduate School of Medicine, Engineering, and Agricultural Science, University of Yamanashi, Yamanashi, 409-3898 Japan.
³ 3Department of Clinical Genome Analysis, Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, 187-8551 Japan.
⁴ 4Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, 187-8551 Japan.
⁵ 5Department of Neurology and Strokology, Nagasaki University Hospital, Nagasaki, 852-8501 Japan.
⁶ 6Department of Pathophysiology, Tokyo Medical University, Tokyo, 160-0023 Japan.

Abstract

VCP 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. VCP 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 VCP: c.259G>T (p.Val87Phe) and c.376A>G (p.Ile126Val).

Publication types

Case Reports