Funding outcome

ANKRD11 (Ankyrin Repeat Domain 11) is a chromatin regulator and a risk gene for KBG syndrome, a rare developmental disorder characterized by multiple organ abnormalities, including cardiac defects. However, the role of ANKRD11 in heart development is unknown. The neural crest plays a leading role in embryonic heart development, and its dysfunction is implicated in many congenital heart defects. Here, using a novel mouse model of KBG syndrome we will determine the role of Ankrd11 in heart development and function. Furthermore, we will identify a mechanism of Ankrd11-deficient heart development. Our work will identify Ankrd11 as a novel regulator of neural crest-mediated heart development and function and will suggest a mechanism for aberrant heart development in KBG syndrome patients. Our results will offer a better counselling for patients and families affected by KBG syndrome and will inform clinical care guidelines for KBG syndrome patients.