Complimentary vertebrate <i>Wac</i> models exhibit phenotypes relevant to DeSanto-Shinawi Syndrome.

ABSTRACT: Monogenic syndromes are associated with neurodevelopmental changes that result in cognitive impairments, neurobehavioral phenotypes including autism and attention deficit hyperactivity disorder (ADHD), and seizures. Limited studies and resources are available to make meaningful headway into the underlying molecular mechanisms that result in these symptoms. One such example is DeSanto-Shinawi Syndrome (DESSH), a rare disorder caused by pathogenic variants in the WAC gene. Individuals with DESSH syndrome exhibit a recognizable craniofacial gestalt, developmental delay/intellectual disability, neurobehavioral symptoms that include autism, ADHD, behavioral difficulties and seizures. However, no thorough studies from a vertebrate model exist to understand how these changes occur. To over

SUBMITTER: Lee KH 

PROVIDER: S-EPMC11142245 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature