APOE ε4 variant interpretation and protein numbering discrepancy: a case report.

Abstract excerpt

BACKGROUND: Alzheimer's disease (AD) is the leading cause of dementia worldwide, and the apolipoprotein E (APOE) ε4 allele is the strongest genetic risk factor for late-onset form. Differences in protein numbering conventions may complicate recognition of clinically important variants during genomic interpretation. METHODS: We report a 57-year-old man with early-onset AD who underwent next-generation sequencing...

Topics

• Humans
• Male
• Apolipoprotein E4
• High-Throughput Nucleotide Sequencing
• Middle Aged
• Alzheimer Disease
• Alleles