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Analysis of dementia-related gene variants in APOE ε4 noncarrying Korean patients with early-onset Alzheimer's disease.

Analysis of dementia-related gene variants in APOE ε4 noncarrying Korean patients with early-onset Alzheimer's disease.

Authors :
Park, Jong Eun
Kim, Hee Jin
Kim, Young-Eun
Jang, Hyemin
Cho, Soo Hyun
Kim, Seung Joo
Na, Duk L.
Won, Hong-Hee
Ki, Chang-Seok
Seo, Sang Won
Source :
Neurobiology of Aging. Jan2020, Vol. 85, p155.e5-155.e8. 1p.
Publication Year :
2020

Abstract

There is a genetic overlap among various neurodegenerative diseases that cause dementia. We analyzed dementia-related gene variants in 60 apolipoprotein E ε4 non-carrying Korean patients with early-onset Alzheimer's disease. Thirty-one dementia-related genes were screened by exome sequencing. Among the 60 patients, three likely pathogenic variants (LPVs) and 1 variant of uncertain significance (VUS) were identified in PSEN1. In addition, two LPVs in TYROBP (c.141del) and PINK1 (c.1220G>A) and 17 VUS were found in other dementia-causing genes. Two variants in SORL1 and TREM2 were identified that were associated with Alzheimer's disease. In this study, we identified 5 (8.3%) LPVs and 18 (30%) VUSs in known dementia-related genes in apolipoprotein E ε4 noncarrying Korean patients with early-onset Alzheimer's disease. • We analyzed 31 dementia-related genes in 60 apolipoprotein E ε4 noncarrying patients with early-onset Alzheimer's disease. • Three likely pathogenic and 1 variant of uncertain significance in PSEN1 were identified. • Two likely pathogenic variant in PINK1 and TYROBP were identified, respectively. • A third of patients carried at least one variant of uncertain significance. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
01974580
Volume :
85
Database :
Academic Search Index
Journal :
Neurobiology of Aging
Publication Type :
Academic Journal
Accession number :
140207123
Full Text :
https://doi.org/10.1016/j.neurobiolaging.2019.05.009