Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

ABSTRACT: Postsynaptic density (PSD) proteins have been implicated in the pathophysiology of neurodevelopmental and psychiatric disorders. Here, we present detailed clinical and genetic data for 20 patients with likely gene-disrupting mutations in TANC2-whose protein product interacts with multiple PSD proteins. Pediatric patients with disruptive mutations present with autism, intellectual disability, and delayed language and motor development. In addition to a variable degree of epilepsy and facial dysmorphism, we observe a pattern of more complex psychiatric dysfunction or behavioral problems in adult probands or carrier parents. Although this observation requires replication to establish statistical significance, it also suggests that mutations in this gene are associated with a variety of neurop

SUBMITTER: Guo H 

PROVIDER: S-EPMC6794285 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature