ABCA7 mutations are major contributors to Alzheimer’s disease in Belgian patients ; Genetics/genetic factors of Alzheimer's disease

Abstract Background ABCA7 was initially associated with Alzheimer’s disease (AD) in genome‐wide association studies. Recent genetic studies suggest a role for rare premature termination codon (PTC) mutations in ABCA7 . While we observed loss of ABCA7 protein for PTC mutations, there was a high variability between mutations due to transcript rescue. Apart from PTC mutations there are missense mutations with unknown effect on ABCA7 protein. Segregation patterns and pathogenicity of ABCA7 mutations are still poorly understood. We aimed at investigating the genetic contribution of ABCA7 in Belgian... Mehr ...