To identify pathogenic variants in 107 Korean patients with sporadic frontotemporal dementia (FTD), 46 genes related to FTD, amyotrophic lateral sclerosis, and other dementias were screened by next-generation sequencing. Hexanucleotide repeats in C9orf72 gene were also tested by repeat-primed polymerase chain reaction. Next-generation sequencing revealed one known pathogenic variant (c.708+1G>A) in the GRN gene in a patient with behavioral variant FTD (bvFTD). In addition, a novel in-frame deletion (c.2675_2683del) in the CSF1R gene was identified in a patient with bvFTD who had severe bifrontal atrophy with frontal subcortical white matter changes. Novel compound heterozygous variants in the AARS2 gene, c.1040+1G>A and c.636G>A (p.Met212Ile), were found in a patient with bvFTD. Forty-six variants of uncertain significance were detected in other patients. None of the patients had expanded hexanucleotide repeats in C9orf72. These results show that pathogenic variants of known FTD genes are rare in Korean FTD patients but the CSF1R and AARS2 genes should be screened for a genetic diagnosis of FTD or other dementias.
|Neurobiology of Aging
|Published - Dec 2018
Bibliographical noteFunding Information:
This study was supported by grants from the Korean Health Technology R&D Project, Ministry of Health, Welfare and Family Affairs, Republic of Korea (HI10C2020 and HI12C0135) and the Brain Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Science, ICT (NRF-2017M3C7A1025364).
© 2018 Elsevier Inc.
- Frontotemporal dementia
- Next-generation sequencing