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

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...

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Autores principales:	Han LH, Xue YY, Zheng YC, Li XY, Lin RR, Wu ZY, Tao QQ
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2020
Materias:	chinese genetic analysis early-onset dementia next-generation sequencing Geriatrics RC952-954.6
Acceso en línea:	https://doaj.org/article/c03c155ef4fd42d692a50a659481b7d7
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spelling	oai:doaj.org-article:c03c155ef4fd42d692a50a659481b7d72021-12-02T05:25:15ZGenetic Analysis of Chinese Patients with Early-Onset Dementia Using Next-Generation Sequencing1178-1998https://doaj.org/article/c03c155ef4fd42d692a50a659481b7d72020-10-01T00:00:00Zhttps://www.dovepress.com/genetic-analysis-of-chinese-patients-with-early-onset-dementia-using-n-peer-reviewed-article-CIAhttps://doaj.org/toc/1178-1998Li-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 workCorrespondence: Zhi-Ying Wu; Qing-Qing Tao Email zhiyingwu@zju.edu.cn; qingqingtao@zju.edu.cnObjective: 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 sequencingHan LHXue YYZheng YCLi XYLin RRWu ZYTao QQDove Medical Pressarticlechinesegenetic analysisearly-onset dementianext-generation sequencingGeriatricsRC952-954.6ENClinical Interventions in Aging, Vol Volume 15, Pp 1831-1839 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	chinese genetic analysis early-onset dementia next-generation sequencing Geriatrics RC952-954.6
spellingShingle	chinese genetic analysis early-onset dementia next-generation sequencing Geriatrics RC952-954.6 Han LH Xue YY Zheng YC Li XY Lin RR Wu ZY Tao QQ Genetic Analysis of Chinese Patients with Early-Onset Dementia Using Next-Generation Sequencing
description	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 workCorrespondence: Zhi-Ying Wu; Qing-Qing Tao Email zhiyingwu@zju.edu.cn; qingqingtao@zju.edu.cnObjective: 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
format	article
author	Han LH Xue YY Zheng YC Li XY Lin RR Wu ZY Tao QQ
author_facet	Han LH Xue YY Zheng YC Li XY Lin RR Wu ZY Tao QQ
author_sort	Han LH
title	Genetic Analysis of Chinese Patients with Early-Onset Dementia Using Next-Generation Sequencing
title_short	Genetic Analysis of Chinese Patients with Early-Onset Dementia Using Next-Generation Sequencing
title_full	Genetic Analysis of Chinese Patients with Early-Onset Dementia Using Next-Generation Sequencing
title_fullStr	Genetic Analysis of Chinese Patients with Early-Onset Dementia Using Next-Generation Sequencing
title_full_unstemmed	Genetic Analysis of Chinese Patients with Early-Onset Dementia Using Next-Generation Sequencing
title_sort	genetic analysis of chinese patients with early-onset dementia using next-generation sequencing
publisher	Dove Medical Press
publishDate	2020
url	https://doaj.org/article/c03c155ef4fd42d692a50a659481b7d7
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Genetic Analysis of Chinese Patients with Early-Onset Dementia Using Next-Generation Sequencing

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