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

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

Lee Darwent  1 , Susana Carmona  1 , Ebba Lohmann  2 , Gamze Guven  3 , Celia Kun-Rodrigues  1 , Basar Bilgic  4 , Hasmet Hanagasi  4 , Hakan Gurvit  4 , Nihan Erginel-Unaltuna  3 , Meltem Pak  4 , John Hardy  1 , Andrew Singleton  5 , Jose Brás  6 , Rita Guerreiro  7
Affiliations

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

Lee Darwent et al. Neurobiol Aging. 2017 Oct.

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.

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Conflict of interest statement

Disclosure statement

The authors have no conflicts of interest to disclose.

Figures

Fig. 1
Fig. 1
Schematic representation of TYROBP (NP_003323) with the previously identified mutations in PLOSL (top) and EOAD (bottom). PLOSL mutations were found in the homozygous or compound heterozygous states. Variants identified in EOAD were found in the heterozygous state. The variant p.Val55Leu found in this study is represented in bold. Abbreviations: EOAD, early-onset Alzheimer’s disease; PLOSL, polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy.
See this image and copyright information in PMC

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