The role of ATP9A (c.1091G > C; p.(Arg364Thr)) variant in cognitive impairment: diagnostic insight from whole exome sequencing

Key Points

• Cognitive impairment correlates with the ATP9A (c.1091G>C; p.(Arg364Thr)) variant, indicating a genetic link.
• The analysis uncovered the variant's role in cognitive decline, with significant findings in affected individuals.
• Through whole exome sequencing, researchers identified the genetic variant's impact on cognitive function in diverse populations.
• These insights may enable future diagnostic tools to assess cognitive impairment risk related to genetic factors.