Biallelic BECN1 variants cause neurodevelopmental disorders via AMPA receptor dysregulation

Genetic regulation of neurodevelopmental disorders that impair brain development and social interaction is complex and poorly understood. Although emerging evidence suggests a link between neurodevelopmental disorders and autophagy deficits, congenital autophagy gene disorders are rare in humans, and underlying molecular mechanisms remain unknown. Here we demonstrate that the autophagy protein BECN1 is a regulator of neuronal and social development in vertebrate species. We identify rare deleterious biallelic BECN1 variants that cause neurodevelopmental disorders in two unrelated families. Bec

This content is for informational purposes only and is not medical advice. It is not intended to diagnose, treat, cure, or prevent any disease. Consult a healthcare professional before starting any supplement, treatment, or program — especially if you are pregnant, nursing, taking medication, or managing a health condition.