Expanding the phenotype of the truncating eIF2 pathogenic variant
p.(Ile465Serfs*4) identified in two brothers with MEHMO syndrom
- Sofia Ygberg,
- Anna Lindstrand
Abstract
We describe two brothers with a truncating variant in EIF2S3 and expand
the phenotypic description of MEHMO. Our cases had the previously
described facial dysmorphic features, severe microcephaly,
hypoglycaemia, hypothyreosis, epilepsy, hypertonus, obesity, micropenis
and death due to multiorgan failure. Additionally, we describe
hypothermia and reduced umbilical blood flow.15 Dec 2021Submitted to Clinical Case Reports 15 Dec 2021Submission Checks Completed
15 Dec 2021Assigned to Editor
23 Dec 2021Reviewer(s) Assigned
14 Mar 2022Review(s) Completed, Editorial Evaluation Pending
18 Mar 2022Editorial Decision: Revise Minor
11 Apr 20221st Revision Received
11 Apr 2022Submission Checks Completed
11 Apr 2022Assigned to Editor
11 Apr 2022Review(s) Completed, Editorial Evaluation Pending
26 Apr 2022Editorial Decision: Accept
