Ghent University - Center for Medical Genetics

In Myhre syndrome (MYHRS), cognitive deficiency, congenital heart disease, and impaired ocular and gastrointestinal development identified neural crest involvement in the pathogenesis. MYHRS results from gain-of-function variants (PV) in SMAD4, that disrupt transforming growth factor ß and bone morphogenic protein signaling. We use a zebrafish model for MYHRS to understand how abnormal neural crest cell migration and differentiation cause cardiovascular manifestations in Myhre syndrome.