| Geno
|
Mag
|
Summary
|
| (A;C)
|
8
|
Early-onset Alzheimer's; see discussion
|
| (C;C)
|
0
|
common in clinvar
|
rs63750083, also known as c.1292C>A, p.Ala431Glu and A431E, represents a rare mutation in the PSEN1 gene on chromosome 14. [There is an alternate allele, c.1292C>T, however the medical consequence if any is not currently reported.]
As described initially in 2006 in families from the Jalisco region of Mexiso, the rs63750083(A) variant is considered a founder mutation for early-onset Alzheimer's disease. It is not clear if it is fully penetrant.
A 2016 NPR article about families with the Jalisco mutation can be found here, and a 2017 USC News article can be found here.
23andMe calls the c.1292C>A SNP by the name i5047580; as far as is known, though, they do not test the C>T allele pair, which is the one for the Jalisco mutation.
[PMID 16628450] Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families.
[PMID 16897084
] The A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: an additional fifteen families.
] The A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: an additional fifteen families.
