ea0088004 | Abstracts | BES2022
Hadis Shakeri
, Izzet Mehmet Akcay
, Mayank Bansal
, Ying Cai
, Chiara Vinci
, Nathalie Pachera
, Hanne Willems
, Federica Fantuzzi
, Yue Tong
, Daniela Gasperikova
, Miriam Cnop
Background and aims: MEHMO is an X-linked syndrome comprising Mental retardation, Epilepsy, Hypogenitalism, Microcephaly and Obesity. It is caused by a damaging p.Ile465Serfs frameshift mutation in EIF2S3 that encodes the □ subunit of eukaryotic translation initiation factor 2 (eIF2), essential for protein synthesis and regulation of the integrated stress response. Patients with this EIF2S3 mutation also have neonatal hypoglycemia, early onset insulin-...