Identifying a genetic cause of epileptic encephalopathy with hypopituitarism

Takeaway

  • Mutations in HID1 domain-containing protein 1 (HID1), a protein involved in vesicle trafficking at the trans-Golgi network (TGN), were identified as a novel cause of hypopituitarism and early infantile encephalopathy.

Why this matters

  • Pathogenic variants affecting proteins associated with the TGN are known to cause several severe diseases, such as early infantile epileptic encephalopathy-4.

  • Mutations in HID1 have not been previously identified as a cause of this disease.