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

NEUROBIOLOGY OF AGING

卷:58

Article

Darwent, Lee¹  Carmona, Susana¹  Lohmann, Ebba^2,3  Guven, Gamze⁴  Kun-Rodrigues, Celia¹  Bilgic, Basar²  Hanagasi, Hasmet²  Gurvit, Hakan²  Erginel-Unaltuna, Nihan⁴  Pak, Meltem²  Hardy, John¹  Singleton, Andrew⁵  Bras, Jose^1,6,7  Guerreiro, Rita^1,6,7 

[1] UCL, Inst Neurol, Dept Mol Neurosci, Queen Sq, London, England

[2] Istanbul Univ, Istanbul Fac Med, Dept Neurol, Behav Neurol & Movement Disorders Unit, Istanbul, Turkey

[3] Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurodegenerat Dis, Tubingen, Germany

[4] German Ctr Neurodegenerat Dis DZNE, Tubingen, Germany

[5] Istanbul Univ, Aziz Sancar Inst Expt Med, Genet Dept, Istanbul, Turkey

[6] Natl Inst Aging, Neurogenet Lab, NIH, Bethesda, MD USA

[7] Univ Aveiro, Inst Biomed iBiMED, Dept Med Sci, Aveiro, Portugal

关键词: TYROBP;    Dementia;    Genetic variant;    Turkish cohort;    Whole-genome genotyping;    Whole-exome sequencing;   

DOI  :  10.1016/j.neurobiolaging.2017.06.019

来源: Elsevier

【 摘 要 】

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. (C) 2017 Elsevier Inc. All rights reserved.

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