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., ...Daha Fazla

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

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 58
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1016/j.neurobiolaging.2017.06.019
  • Dergi Adı: Neurobiology of Aging
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: TYROBP, Dementia, Genetic variant, Turkish cohort, Whole-genome genotyping, Whole-exome sequencing, ALZHEIMERS-DISEASE
  • İstanbul Üniversitesi Adresli: Evet

Özet

© 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.