Funding outcome

KBG syndrome is the result of a rare birth defect that leads to multiple anomalies, most prominent skeletal growth defects. The particular gene altered in KBG syndrome encodes for ANKRD11, a protein important for normal cell differentiation. Mutations in genes associated with cell differentiation are frequently associated with developmental anomalies and cancer. We recently discovered that ANKRD11 controls various aspects of cartilage formation. Several of these aspects could explain clinical manifestations in KBG syndrome children: short stature, bones that fracture more easily, feeding difficulties, failure to drive, and conductive hearing loss. In this project we will use mice that carry cell type-specific deletion of Ankrd11 to study the role of Ankrd11 for two structures: long bones to understand what causes the short stature and increased fracture risk, as well as cartilages of the larynx, wich are critical for physiological swallowing and breathing. The use of mouse models allows to investigate which of the various steps during cartilage and bone development are altered in the absence of Ankrd11. This in turn allows conclusions on its function and will offer opportunities for better anticipation and management of some of important problems seen in KBG patients.