NPTN gene variants linked to autism through disrupted brain cell signaling
Bioengineer.org
Researchers have identified de novo variants in the NPTN gene as a new genetic cause of autism and intellectual disability. These mutations disrupt the anchoring of calcium pumps on brain cell membranes, leading to excessive calcium influx that breaks down synaptic signaling essential for learning and social behavior. This discovery provides a definitive molecular explanation for developmental delays in affected children while expanding the catalogue of known neurodevelopmental disease genes.
All articles from 31 August 2026. Summaries are AI-generated and may contain errors; the linked article is the authority.