TY - JOUR T1 - A murine <em>Wac</em> model exhibits phenotypes relevant to DeSanto-Shinawi Syndrome JF - bioRxiv DO - 10.1101/2022.01.24.477600 SP - 2022.01.24.477600 AU - April M Stafford AU - Maria Pacheco-Vergara AU - Katie L Uhl AU - Tara E Jager AU - Xiaopeng Li AU - Juhee Jeong AU - Daniel Vogt Y1 - 2022/01/01 UR - http://biorxiv.org/content/early/2022/01/27/2022.01.24.477600.abstract N2 - Several monogenic syndromes are associated with neurodevelopmental changes that result in cognitive impairments, including autism, attention deficit hyperactivity disorder (ADHD) and seizures. Limited studies and resources are available to make meaningful headway into the underlying mechanisms that result in these symptoms. One such example, DeSanto-Shinawi Syndrome (DESSH), is a rare disorder caused by mutations in the WAC gene. Those diagnosed with DESSH experience craniofacial alterations as well as cognitive symptoms that include autism, ADHD and seizures. However, no thorough studies from a mammalian model exist to understand how these changes occur. To overcome this, we generated constitutive murine Wac mutants and assessed phenotypes that are relevant to humans diagnosed with DESSH. Wac mutants have craniofacial, anatomical, behavioral and seizure susceptibility that are relevant to DESSH; this new model is suited to study some of the core symptoms of DESSH and the biology of Wac.Competing Interest StatementThe authors have declared no competing interest. ER -