Searchable abstracts of presentations at key conferences in endocrinology

ea0045p70 | Pituitary and growth | BSPED2016

A mutation in eukaryotic translation initiation factor 2 subunit 3 (EIF2S3) associated with a novel syndrome of X-linked hypopituitarism and glucose dysregulation

Gregory Louise , Ferreira Carolina , Williams Hywel , Rahman Sofia , Alatzoglou Kyriaki , Kapoor Ritika , Jones Peter , Hussain Khalid , Gaston-Massuet Carles , Qasim Waseem , Dattani Mehul

Background: EIF2S3 (NM_001415; Xp22.11) mutations have previously been reported in a single pedigree with microcephaly and developmental delay. The gene encodes the eukaryotic translation initiation factor 2 subunit 3 (eIF2γ), the largest of three EIF2 subunits. EIF2 is a heterotrimeric GTP-binding protein, which initiates protein synthesis. It forms a ternary complex, mediating recruitment of initiator methionyl-tRNA to the 40S ribosomal subunit to scan the mRNA...