Novel presenilin 1 mutation (p.F386I) in a Chinese family with early-onset Alzheimer's disease.
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.
Department of Medicine, LKS Faculty of Medicine, University of Hong Kong, Queen Mary Hospital, Hong Kong, Hong Kong. Electronic address: syf321@ha.org.hk.
Yat-Fung
YF
Shea
Division of Clinical Biochemistry, Department of Pathology & Clinical Biochemistry, Queen Mary Hospital, Hong Kong, Hong Kong.
Angel On-Kei
AO
Chan
Department of Medicine, LKS Faculty of Medicine, University of Hong Kong, Queen Mary Hospital, Hong Kong, Hong Kong; Alzheimer's Disease Research Network, Strategic Research Theme on Aging, University of Hong Kong, Hong Kong, Hong Kong.
Leung-Wing
LW
Chu
Department of Medicine, LKS Faculty of Medicine, University of Hong Kong, Queen Mary Hospital, Hong Kong, Hong Kong.
Shui-Ching
SC
Lee
Division of Clinical Biochemistry, Department of Pathology & Clinical Biochemistry, Queen Mary Hospital, Hong Kong, Hong Kong.
Chun-Yin
CY
Law
Division of Clinical Biochemistry, Department of Pathology & Clinical Biochemistry, Queen Mary Hospital, Hong Kong, Hong Kong.
Chung-Him
CH
See
Division of Clinical Biochemistry, Department of Pathology & Clinical Biochemistry, Queen Mary Hospital, Hong Kong, Hong Kong.
Kit-Ling
KL
Yiu
Department of Medicine, LKS Faculty of Medicine, University of Hong Kong, Queen Mary Hospital, Hong Kong, Hong Kong.
Patrick Ka-Chun
PK
Chiu
D000328:Adult; D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D003062:Codon / Q000235:genetics; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D056726:Genetic Association Studies; D006579:Heterozygote; D006801:Humans; D007532:Isoleucine / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D010649:Phenylalanine / Q000235:genetics; D053764:Presenilin-1 / Q000235:genetics*
D003062:Codon; C508853:PSEN1 protein, human; D053764:Presenilin-1; D007532:Isoleucine; D010649:Phenylalanine
Autosomal dominant; Chinese; Familial Alzheimer's disease; Mutation; Presenilin 1