Neuroplastin mutation linked to autism, epilepsy in German study

An international research team led by the Leibniz Institute for Neurobiology in Magdeburg identified spontaneous mutations in the NPTN gene, which encodes the Neuroplastin protein, in eight children with previously unexplained developmental disorders. All affected children showed developmental delays; seven were diagnosed with autism and several also developed epilepsy, speech loss, or motor and sleep abnormalities. The mutations arose de novo during early development and were not inherited from the parents.

Neuroplastin regulates neuronal calcium homeostasis by supporting PMCA calcium‑pump function. Laboratory experiments and mouse models demonstrated that reduced Neuroplastin levels impair calcium clearance, disrupt neuronal signal processing, and diminish social behavior. The findings provide a new genetic marker for diagnosing rare neurodevelopmental conditions and a basis for further research into therapeutic approaches.