Mutations in TYROBP are not a common cause of dementia in a Turkish cohort

Neurobiol Aging. 2017 Oct;58:240.e1-240.e3. doi: 10.1016/j.neurobiolaging.2017.06.019. Epub 2017 Jun 28.

Abstract

Mutations in TYROBP and TREM2 have been shown to cause polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. Recently, variants in TREM2 were also associated with frontotemporal dementia and Alzheimer's disease. Given the functional proximity between these 2 genes, we investigated the genetic variation of TYROBP in a Turkish cohort of 103 dementia patients. No mutations or copy number variants predicted to be pathogenic were identified. These results indicate that mutations in TYROBP are not a common cause of dementia in this Turkish cohort.

Keywords: Dementia; Genetic variant; TYROBP; Turkish cohort; Whole-exome sequencing; Whole-genome genotyping.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Cohort Studies
  • Dementia / genetics*
  • Genome-Wide Association Study*
  • Humans
  • Membrane Glycoproteins / genetics
  • Membrane Proteins / genetics*
  • Mutation / genetics*
  • Receptors, Immunologic / genetics
  • Turkey
  • Whole Exome Sequencing

Substances

  • Adaptor Proteins, Signal Transducing
  • Membrane Glycoproteins
  • Membrane Proteins
  • Receptors, Immunologic
  • TREM2 protein, human
  • TYROBP protein, human