hrp0086fc3.4 | Pituitary | ESPE2016

A Novel Mutation in Eukaryotic Translation Initiation Factor 2 Subunit 3 (EIF2S3) is Associated with X-Linked Hypopituitarism and Glucose Dysregulation

Gregory Louise C. , Williams Hywel , Rahman Sophia , Ferreira Carolina B. , Alatzoglou Kyriaki S. , Kapoor Ritika R. , Hussain Khalid , Gaston-Massuet Carles , Kelberman Daniel , Qasim Waseem , Dattani Mehul T.

Background: A mutation in EIF2S3 (NM_001415; Xp22.11) was previously associated with microcephaly and developmental delay in a single pedigree. EIF2S3 encodes the eukaryotic translation initiation factor 2 subunit 3 (eIF2γ), the largest of three EIF2 subunits. EIF2 initiates protein synthesis by forming a ternary complex with GTP and initiator methionyl-tRNA which then binds to the 40S ribosomal subunit, enabling scanning of mRNA from the 5′ end to...

hrp0082p2-d1-324 | Diabetes | ESPE2014

Two Novel Homozygous Mutations in WFS1 Gene in Two Turkish Families with Mild Phenotypic Expression of Wolfram Syndrome

Sherif Maha , Demirbilek Huseyin , Cayir Atilla , Ozbek Mehmet Nuri , Baran Riza Taner , Cebeci Ayse Nurcan , Tahir Sophia , Rahman Sofia , Dattani Mehul , Hussain Khalid

Background: Wolfram syndrome (WS or DIDMOAD) is a rare (prevalence of 1/770,000) autosomal recessive multi-systemic neurodegenerative disease, characterized by non-autoimmune diabetes mellitus (DM) and optic atrophy. Additional features include diabetes insipidus (DI), sensorineural deafness, urinary tract abnormalities, ataxia, psychiatric illness, and other endocrine disturbances leading to death in mid-adulthood. This syndrome is caused by recessive mutations in the wolfram...