Functional assessment of the “two-hit” model for neurodevelopmental defects in Drosophila and X. laevis
Pizzo et al. study a model of additional, or “second-hits,” neurodevelopmental disorder variants beyond a 16p12.1 deletion. They find that 16p12.1 homologs independently lead to multiple neurodevelopmental features and weakly interact with each other, suggesting that interactions with “second-hit” homologs potentially have a higher impact towards neurodevelopmental defects.
Image credit: Pizzo et al., pgen.1009112