Please use this identifier to cite or link to this item: https://hdl.handle.net/10356/104418
Title: Targeted exome sequencing reveals homozygous TREM2 R47C mutation presenting with behavioral variant frontotemporal dementia without bone involvement
Authors: Ng, Adeline S. L.
Tan, Yi Jayne
Yi, Zhao
Tandiono, Moses
Chew, Elaine
Dominguez, Jacqueline
Macas, Mabel
Ng, Ebonne
Hameed, Shahul
Ting, Simon
Tan, Eng King
Foo, Jia Nee
Kandiah, Nagaendran
Keywords: Science::Medicine
TREM2
Frontotemporal Dementia
Issue Date: 2018
Source: Ng, A. S., Tan, Y. J., Yi, Z., Tandiono, M., Chew, E., Dominguez, J., . . . Kandiah, N. (2018). Targeted exome sequencing reveals homozygous TREM2 R47C mutation presenting with behavioral variant frontotemporal dementia without bone involvement. Neurobiology of Aging, 68, 160.e15-160.e19. doi:10.1016/j.neurobiolaging.2018.04.003
Series/Report no.: Neurobiology of Aging
Abstract: To identify genes associated with frontotemporal dementia (FTD) in South-East Asia, targeted exome sequencing and C9orf72 genotyping was performed in 198 subjects (52 patients with FTD and 146 healthy controls) who were screened for mutations in 12 FTD-associated genes. We detected a homozygous TREM2 R47C mutation in a patient with behavioral variant FTD without bone cysts or bone-associated phenotype. Two novel nonsense GRN mutations in 3 FTD patients from the Philippines were detected, but no known pathogenic mutations in other FTD-associated genes were found. In 45 subjects screened for C9orf72 repeat expansions, no pathogenic expansion (≥30 repeats) was identified, but there was a higher proportion of intermediate length (≥10–29 repeats) alleles in patients compared with controls (8/90 alleles, 8.9% vs. 9/164 alleles, 5.5%). Overall, we detected a mutation rate of 7.7% (4/52 patients) in our cohort. Given recent findings of enrichment of rare TREM2 variants (including R47C) in Alzheimer's disease, it is notable that we detected a homozygous TREM2 R47C carrier presenting with an FTD rather than an Alzheimer's disease phenotype.
URI: https://hdl.handle.net/10356/104418
http://hdl.handle.net/10220/50008
ISSN: 0197-4580
DOI: http://dx.doi.org/10.1016/j.neurobiolaging.2018.04.003
Rights: © 2018 Elsevier Inc. All rights reserved. This paper was published in Neurobiology of Aging and is made available with permission of Elsevier Inc.
metadata.item.grantfulltext: open
metadata.item.fulltext: With Fulltext
Appears in Collections:LKCMedicine Journal Articles

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