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.