De novo mutations in EIF2B1 affecting eIF2 signaling cause neonatal/early onset diabetes and transient hepatic dysfunction

摘要

We would like to thank the families for participating in the study. We are also grateful to Rebecca Ward (Exeter Genomics Laboratory, RD&E Hospital) for technical assistance, Dr Thomas Laver (University of Exeter Medical School) for critical review of the manuscript, and Dr Ethel Codner (Institute for Mother and Child Research, University of Chile) for assistance with clinical data collection. E.D.F. is a Diabetes UK RD Lawrence Fellow (19/005971) and the recipient of an EFSD Rising Star Fellowship (2018). E.D.F. has also received funding from DRWF. A.T.H. and S.E. are the recipients of a Wellcome Trust Senior Investigator award (grant WT098395/Z/12/Z) and A.T.H. is employed as a core member of staff within the NIHR funded Exeter Clinical Research Facility and is an NIHR senior investigator. S.E.F. has a Sir Henry Dale Fellowship jointly funded by the Wellcome Trust and the Royal Society (grant number 105636/Z/14/Z). D.R.’s research is supported by a Wellcome Trust Principal Research Fellowship (Wellcome Trust 200848/Z/16/Z). Whole genome data analysis was run on the University of Exeter ISCA high performance computing facility.