This website provides information on patients with mutations in the NPTN gene, including clinical data. Also, we collect and display preclinical (Nptn mouse models), cellular, and molecular research, as well as management and research options.

The NPTN-related syndrome, caused by mutations in the NPTN gene, seems characterized by overlapping, albeit nonspecific, phenotypes. Patients displaying both de novo and inherited NPTN variants have been diagnosed with autism, mild to severe developmental delay (DD) and intellectual disability (ID) and other neurodevelopmental deficits. This points to the existence of pathological mechanisms related to insufficient amount or alterations in the NPTN gene products expressed in the brain, which are the isoforms of the type I transmembrane glycoprotein Neuroplastin: human Neuroplastin55 (hNp55) and neuron-specific human Neuroplastin65 (hNp65).

Our goal is to share and collect information about clinical, preclinical, management, and research projects aimed at understanding molecular mechanisms and pharmacological approaches to gather more knowledge and provide better treatment of patients with mutations in the NPTN gene.

For questions, please contact:

Konrad Platzer, MD, Clinical Genomics, Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany, konrad.platzer@medizin.uni-leipzig.de

Dirk Montag, PhD, Neurogenetics Laboratory, Leibniz Institute for Neurobiology, Magdeburg, Germany, dirk.montag@lin-magdeburg.de; dirk.montag@neurogenetic.de

Rodrigo Herrera-Molina, PhD, Department of Pharmacology & Physiology, School of Medicine and Health Sciences, The George Washington University, Washington, DC, USA, rherreramolina@gwu.edu; rherrera@ubo.cl