Probable Novel PSEN1 Gln222Leu Mutation in a Chinese Family with Early-Onset Alzheimer's Disease

Author(s): Huayuan Wang, Ruihua Sun, Yingying Shi, Mingrong Xia, Jing Zhao, Miaomiao Yang, Limin Ma, Yajing Sun, Gai Li, Haohan Zhang, Weiwei Qin, Jiewen Zhang*.

Journal Name: Current Alzheimer Research

Volume 16 , Issue 8 , 2019

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Background:The rate of occurrence of Alzheimer’s disease is increasing around the world. However, there is still no significant breakthrough in the study of its etiology and pathogenesis.

Objective:To screen Alzheimer's disease pathogenic genes, which may be conducive to the elucidation of the pathogenic mechanisms of Alzheimer's disease And predict the pathogenicity by various computer software.

Method:Clinical and neuroimaging examination, Whole Exome Sequencing, and Sanger sequencing were performed in the proband. Mutation sites were verified in 158 subjects.

Results:We reported a proband carrying a probably novel pathogenic mutation, which clinically manifests as progressive memory loss, visual-spatial disorders, apraxia, psychobehavioral disorders, and temperamental and personality changes. Whole Exome Sequencing detected a novel missense mutation at codon 222 (Q222L), which is a heterozygous A to T point mutation at position 665 (c.665A>T) in exon 5 of the presenilin 1 leading to a glutamine-to-leucine substitution. The mutation was also identified by Sanger sequencing in one family member; nevertheless, it was not detected in the other 7 unaffected family members, 50 sporadic Alzheimer's disease patients and 100 control subjects.

Conclusion:A novel mutation in exon 5 of the presenilin 1 gene (Gln222Leu) in a Chinese family with early-onset Alzheimer’s disease has been reported, besides, it was predicted that the missense mutation was probably a novel pathogenic mutation that was reported for the first time in a Chinese family with early-onset Alzheimer’s disease.

Keywords: Early-onset Alzheimer's disease, familial, mutation, PSEN1 Gln222Leu mutation, dementia, memory loss.

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Article Details

Year: 2019
Page: [764 - 769]
Pages: 6
DOI: 10.2174/1567205016666190806161342
Price: $58

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