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Targeted exome sequencing reveals homozygous TREM2 R47C mutation presenting with behavioral variant frontotemporal dementia without bone involvement.

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.

journal_name

Neurobiol Aging

journal_title

Neurobiology of aging

authors

Ng ASL,Tan YJ,Yi Z,Tandiono M,Chew E,Dominguez J,Macas M,Ng E,Hameed S,Ting S,Tan EK,Foo JN,Kandiah N

doi

10.1016/j.neurobiolaging.2018.04.003

subject

Has Abstract

pub_date

2018-08-01 00:00:00

pages

160.e15-160.e19

eissn

0197-4580

issn

1558-1497

pii

S0197-4580(18)30125-8

journal_volume

68

pub_type

杂志文章

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