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Genetic Analysis of Chinese Patients with Early-Onset Dementia Using Next-Generation Sequencing

Authors Han LH, Xue YY, Zheng YC, Li XY, Lin RR, Wu ZY, Tao QQ

Received 13 July 2020

Accepted for publication 1 September 2020

Published 2 October 2020 Volume 2020:15 Pages 1831—1839


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 3

Editor who approved publication: Dr Richard Walker

Li-Hong Han,1,2,* Yan-Yan Xue,1,* Yi-Cen Zheng,3 Xiao-Yan Li,1 Rong-Rong Lin,1 Zhi-Ying Wu,1 Qing-Qing Tao1

1Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, People’s Republic of China; 2Department of Neurology, Second People’s Hospital of Luqiao District, Taizhou, People’s Republic of China; 3Department of Psychology, Tulane University School of Science and Engineering, New Orleans, LA, USA

*These authors contributed equally to this work

Correspondence: Zhi-Ying Wu; Qing-Qing Tao Email;

Objective: Early-onset dementia (EOD) is a relatively uncommon form of dementia that afflicts people before age 65. Only a few studies analyzing the genetics of EOD have been performed in the Chinese Han population. Diagnosing EOD remains a challenge due to the diverse genetic and clinical heterogeneity of these diseases. The aim of this study was to investigate the genetic spectrum and clinical features of Chinese patients with EOD.
Materials and Methods: A total of 49 EOD patients were recruited. Targeted next-generation (NGS) analyses were performed to screen for all of the known genes associated with dementia. Possible pathogenic variants were confirmed by performing Sanger sequencing. The genetic spectrum and clinical features of the EOD patients were analyzed.
Results: Seven previously reported pathogenic variants (p.I213T and p.W165C in PSEN1; p.D678N in APP; c.1349_1352del in TBK1; p.P301L and p.R406W in MAPT; p.R110C in NOTCH3) and two novel variants of uncertain significance (p.P436L in PSEN2; c.239-11G>A in TARDBP) were identified.
Conclusion: Our study demonstrated the genetic spectrum and clinical features of EOD patients, and it reveals that genetic testing of known causal genes in EOD patients can help to make a precise diagnosis.

Keywords: Chinese, genetic analysis, early-onset dementia, next-generation sequencing

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