Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.
Anne SchänzerMelanie T AchleitnerDietrich TrümbachLaurence HubertArnold MunnichBarbara AhlemeyerMaha M AlAbdulrahimPhilipp A GreifSebastian VosbergBlake HummerRené Günther FeichtingerJohannes A MayrSaskia B WortmannHeidi AichnerSabine Rudnik-SchönebornAnna RuizElisabeth GabauJacobo Pérez SánchezSian EllardTessa HomfrayKaren L StalsWolfgang WurstBernd A NeubauerTill AckerStefan K BohlanderCédric AsensioClaude BesmondFowzan Sami AlkurayaMoenaldeen D AlSayedAndreas HahnAxel WeberPublished in: Annals of neurology (2021)
Our findings indicate that mutations in HID1 cause an early infantile encephalopathy with hypopituitarism as the leading presentation, and expand the list of syndromic CNS diseases caused by interference of TGN function. ANN NEUROL 2021;90:149-164.