For example, the de novo missense mutation c.4354C>T (p.1452R>C) in GRIN2A (MIM 138253, ENST00000461292) was found in F2, a female with atrioventricular septal defect (AVSD), hepatic dysfunction, polydactyly, panhypopituitarism and brain injury. The gene discussed is GRIN2A; the disease is familial atrioventricular septal defect.