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Probable Novel PSEN1 Gln222Leu Mutation in a Chinese Family with Early-Onset Alzheimer's Disease.
- Source :
-
Current Alzheimer research [Curr Alzheimer Res] 2019; Vol. 16 (8), pp. 764-769. - Publication Year :
- 2019
-
Abstract
- 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.<br />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.<br />Methods: Clinical and neuroimaging examination, Whole Exome Sequencing, and Sanger sequencing were performed in the proband. Mutation sites were verified in 158 subjects.<br />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.<br />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.<br /> (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)
Details
- Language :
- English
- ISSN :
- 1875-5828
- Volume :
- 16
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- Current Alzheimer research
- Publication Type :
- Academic Journal
- Accession number :
- 31385772
- Full Text :
- https://doi.org/10.2174/1567205016666190806161342