Identifying and characterizing de novo mutations that lead to neurodevelopmental changes

Takeaway

  • Genetic analyses and protein modelling showed that mutations to serine/threonine p21-activating kinase 1 (PAK1) found in four young people were the cause of their intellectual disability and macrocephaly.

Why this matters

    These mechanistic findings provide an important prerequisite for personalized therapeutic approaches to treating this type of neurodevelopmental disorder.