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

Michio InoueAritoshi IidaShinichiro HayashiMadoka Mori-YoshimuraAtsushi NagaokaShunsuke YoshimuraHirokazu ShiraishiAkira TsujinoYuji TakahashiIkuya NonakaYukiko K HayashiSatoru NoguchiIchizo Nishino
Published in: Human genome variation (2018)
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).
Keyphrases
  • amyotrophic lateral sclerosis
  • copy number
  • intellectual disability
  • plasmodium falciparum
  • protein protein
  • binding protein
  • early onset
  • late onset
  • gene expression
  • dna methylation
  • body composition
  • bone loss