Open AccessExpanding the phenotype of the recurrent truncating eIF2γ pathogenic variant p.( Ile465Serfs *4) identified in two brothers with MEHMO syndrome
Author(s) -
Ygberg Sofia,
Lindstrand Anna
Publication year - 2022
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.5989
Subject(s) - microcephaly , micropenis , medicine , hypoglycemia , epilepsy , global developmental delay , pediatrics , diabetes mellitus , phenotype , bioinformatics , genetics , endocrinology , psychiatry , gene , surgery , biology , hypospadias
Abstract We describe two brothers with a recurrent truncating EIF2S3 variant and MEHMO (Mental retardation, Epileptic seizures, Hypogonadism and ‐genitalism, Microcephaly, Obesity). Both had the previously described facial dysmorphic features, microcephaly, developmental impairment, hypoglycemia, hypothyreosis, diabetes mellitus, epilepsy, hypertonus, obesity, and micropenis. Additionally, we describe hypothermia and reduced umbilical blood flow.