Article
Broadening the phenotypic spectrum and physiological insights related to EIF2S3 variants.
Human mutation - 1 Jul 2021
Moortgat Stephanie, Manfroid Isabelle, Pendeville Hélène, Freeman Stephen, Bourdouxhe Jordane, Benoit Valérie, Merhi Ahmad, Philippe Christophe, Faivre Laurence, Maystadt Isabelle
Abstract excerpt
Mental deficiency, epilepsy, hypogonadism, microcephaly, and obesity syndrome is a severe X-linked syndrome caused by pathogenic variants in EIF2S3. The gene encodes the γ subunit of the eukaryotic translation initiation factor-2, eIF2, essential for protein translation. A recurrent frameshift variant is described in severely affected patients while missense variants usually cause a moderate phenotype. We...
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