| Mutation in the PSEN2 Gene |
| Geno
|
Mag
|
Summary
|
| (A;A)
|
0
|
Normal
|
| (A;G)
|
1
|
Carrier of possibly damaging mutation leading to Alzheimer's Disease
|
| (G;G)
|
1.5
|
Carrier of possibly damaging mutation leading to Alzheimer's Disease
|
Met174Val (A > G) mutation; unclear if pathogenic, it is included in the Alzheimer Disease & Frontotemporal Dementia Mutation Database.
Clinical manifestation : early onset Alzheimer's Disease
Early literature classified this as pathogenic, the latest ones cast some doubts.
[PMID 18667258
] Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP.
[PMID 22312439] Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.
] Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP.
