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

Darwent L., Carmona S., Lohmann E., GUVEN G., Kun-Rodrigues C., Bilgic B., ...More

Neurobiology of Aging, vol.58, 2017 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 58
  • Publication Date: 2017
  • Doi Number: 10.1016/j.neurobiolaging.2017.06.019
  • Journal Name: Neurobiology of Aging
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Keywords: TYROBP, Dementia, Genetic variant, Turkish cohort, Whole-genome genotyping, Whole-exome sequencing, ALZHEIMERS-DISEASE
  • Istanbul University Affiliated: Yes

Abstract

© 2017 Elsevier Inc.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.