Genetic aetiology of Noonan syndrome

Noonan syndrome is characterised by short stature, distinctive facial features , congenital heart defects and other associated features including cryptorchidism in males and skeletal abnormalities. NS is an autosomal dominant condition affecting approximately 1 in 1000-2500 births. Genetic variants involved in the RAS MAPK pathway account for 75-80 percent of cases, leaving 15-20 percent of cases with unknown causes. This project aims to identify further genetic aetiologies of NS and their impact on the GH-IGF-1 axis.