A novel variant c.3706C>T p.(Avg 1236Cys) in the ABCA7 gene in a Saudi patient with susceptibility to Alzheimer's disease 9.

ABSTRACT: Alzheimer's disease (AD) is the most common cause of dementia with around 50 million people suffering from this disease worldwide. Mutations in the ATP-binding cassette sub-family A member 7 (ABCA7) have been reported to cause susceptibility to AD 9 (OMIM #608907). In this study, we report a novel variant in ABCA7 in a Saudi patient with susceptibility to AD 9 and a strong family history of neurodegenerative disorders, which may be explained by the same variant. We studied a single 57-year-old female patient with typical symptoms of AD supported by MRI findings from a Saudi family with a positive history of a similar disease in multiple individuals. The case study was conducted in King Abdulaziz Medical City in Jeddah, Saudi Arabia. Whole-exome sequencing identified the novel

SUBMITTER: Algahtani H 

PROVIDER: S-EPMC7441036 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature