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|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
Tan, Eng King
Foo, Jia Nee
|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
|ISSN:||0197-4580||DOI:||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.||Fulltext Permission:||open||Fulltext Availability:||With Fulltext|
|Appears in Collections:||LKCMedicine Journal Articles|
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