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Genetic analysis of VCP variants in a Turkish dementia cohort

Dehghani, N.; Tufekcioglu, Z.; Guven, G.; Westra, K.; Hanagasi, H.; Lohmann, E.; Samanci, B.; Gurvit, H.; Bilgic, B.; Guerreiro, R.; Emre, M.; Bras, J.

2023-02-14 genetic and genomic medicine
10.1101/2023.02.13.23285395 medRxiv
Show abstract

Valosin-containing protein (VCP) mutations are causative for multisystem proteinopathy, a disease characterized by variable phenotypes including inclusion body myopathy, Pagets disease of bone, and frontotemporal dementia. More recent reports identified VCP variants as the cause of other neurodegenerative diseases, such as Parkinsons disease and vacuolar tauopathy. We screened a Turkish dementia cohort for VCP variants in order to assess their role as the cause of disease in this population. One hundred and forty six Turkish dementia patients were examined clinically and were analyzed for VCP coding variants using whole-exome sequencing. Familial samples were collected and analyzed in order to test for segregation of candidate variants. We identified a heterozygous missense VCP p.Ile216Met variant segregating with disease in a family where the proband was diagnosed with prodromal dementia with Lewy bodies. Our report potentially extends the spectrum of phenotypes attributed to VCP mutations to include prodromal dementia with Lewy bodies.

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