Novel presenilin 1 mutation (p.F386I) in a Chinese family with early-onset Alzheimer's disease

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• 作者：Yat-Fung Shea^a ; ^{syf321@ha.org.hk} ; Angel On-Kei Chan^b ; Leung-Wing Chu^a ; ^c ; Shui-Ching Lee^a ; Chun-yin Law^b ; Chung-him See^b ; Kit-ling Yiu^b ; Patrick Ka-Chun Chiu^a
• 关键词：Autosomal dominant ; Chinese ; Familial Alzheimer's disease ; Mutation ; Presenilin 1
• 刊名：Neurobiology of Aging
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：50
• 期：Complete
• 页码：168.e9-168.e11
• 全文大小：594 K
• 卷排序：50

文摘

Autosomal dominant familial Alzheimer's disease accounts for 0.5% of all Alzheimer's disease. A familial Alzheimer's disease Chinese family, with 7 affected family members, underwent PSEN1 screening in 3 affected family members. A heterozygous novel missense mutation in the PSEN1 gene c.1156T>A, altering phenylalanine to isoleucine at codon 386, was identified. Because the change occurred in conserved domains of this gene and cosegregated with affected family members, this change may have a mutagenic and probably pathogenic effect.