Loss of the Chr16p11.2 ASD candidate gene QPRT leads to aberrant neuronal differentiation in the SH-SY5Y neuronal cell model.

For: All,

This study suggests that losing the QPRT gene—which is missing in people with a proximal 16p11.2 deletion—disrupts how brain cells grow and connect very early in development, helping families understand that some learning, behavior, and emotional challenges are rooted in early brain wiring and reinforcing the value of early developmental supports rather than expecting later “fixes.”