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

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.

SUBMITTER: Darwent L

PROVIDER: S-EPMC5985528 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature

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

Darwent Lee L Carmona Susana S Lohmann Ebba E Guven Gamze G Kun-Rodrigues Celia C Bilgic Basar B Hanagasi Hasmet H Gurvit Hakan H Erginel-Unaltuna Nihan N Pak Meltem M Hardy John J Singleton Andrew A Brás Jose J Guerreiro Rita R

Neurobiology of aging 20170628

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 mutatio ...[more]

PMID: 28716534

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