Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia–like syndrome without bone involvement
Objective To identify new genes and risk factors associated with frontotemporal dementia
(FTD). Several genes and loci have been associated with different forms of FTD, but a large
number of families with dementia do not harbor mutations in these genes. Design Whole-
exome sequencing and whole-genome genotyping were performed in all patients. Genetic
variants obtained from whole-exome sequencing were integrated with the data obtained
from whole-genome genotyping. Setting Database of the Behavioral Neurology Outpatient …
(FTD). Several genes and loci have been associated with different forms of FTD, but a large
number of families with dementia do not harbor mutations in these genes. Design Whole-
exome sequencing and whole-genome genotyping were performed in all patients. Genetic
variants obtained from whole-exome sequencing were integrated with the data obtained
from whole-genome genotyping. Setting Database of the Behavioral Neurology Outpatient …