VPS35 and DNAJC13 disease-causing variants in essential tremor

Alex Rajput, Jay P. Ross, Cecily Q. Bernales, Sruti Rayaprolu, Alexandra I. Soto-Ortolaza, Owen A. Ross, Jay Van Gerpen, Ryan J. Uitti, Zbigniew K. Wszolek, Ali H. Rajput, Carles Vilariño-Güell

Research output: Contribution to journalArticlepeer-review

14 Scopus citations

Abstract

Exome-sequencing analyses have identified vacuolar protein sorting 35 homolog (VPS35) and DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13) harboring disease-causing variants for Parkinson disease (PD). Owing to the suggested clinical, pathological and genetic overlap between PD and essential tremor (ET) we assessed the presence of two VPS35 and DNAJC13 disease-causing variants in ET patients. TaqMan probes were used to genotype VPS35 c.1858G>A (p.(D620N)) (rs188286943) and DNAJC13 c.2564A>G (p.(N855S)) (rs387907571) in 571 ET patients of European descent, and microsatellite markers were used to define the disease haplotype in variant carriers. Genotyping of DNAJC13 identified two ET patients harboring the c.2564A>G (p.(N855S)) variant previously identified in PD patients. Both patients appear to share the disease haplotype previously reported. ET patients with the VPS35 c.1858G>A (p.(D620N)) variants were not observed. Although a genetic link between PD and ET has been suggested, DNAJC13 c.2564A>G (p.(N855S)) represents the first disease-causing variant identified in both, and suggests the regulation of clathrin dynamics and endosomal trafficking in the pathophysiology of a subset of ET patients.

Original languageEnglish (US)
Pages (from-to)887-888
Number of pages2
JournalEuropean Journal of Human Genetics
Volume23
Issue number6
DOIs
StatePublished - Jun 15 2015

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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