Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder

We describe six individuals from five unrelated families harboring variants in ATG12, a core autophagy gene, resulting in a neurodevelopmental disorder. Using patient tissue and in vitro and in vivo models, we show that these variants disrupt autophagy, leading to neurological phenotypes. This work highlights the growing importance of congenital autophagy disorders.