Whole-exome sequencing detected a novel APP variant in a Han-Chinese family with Alzheimer's disease.

BACKGROUND

Alzheimer's disease (AD) is an incurable and debilitating neurodegenerative disease that results in the progressive degeneration and death of nerve cells. Mutations in the APP gene, which encodes an amyloid precursor protein, is the strongest genetic risk factor for sporadic AD.

METHODS AND

RESULTS

We studied the APP gene (NM_000484.3: c.2045A > T; p.E682V) variants carried by members of a family suffering from AD using whole-exome sequencing and Sanger sequencing.

CONCLUSION

In this study, we identified a new variant of the APP gene (NM_000484.3: c.2045A > T; p.E682V) in members of a family with AD. This provides potential targets for subsequent studies and information that can be used in genetic counselling.