%0 Journal Article
%T Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA : Report of a new patient and review of the literature.
%A Teutonico F
%A Volpe C
%A Proto A
%A Costi I
%A Cavallari U
%A Doneda P
%A Iascone M
%A Sturiale L
%A Barone R
%A Martinelli S
%A Vignoli A
%J Neurogenetics
%V 25
%N 3
%D 2024 Jul 18
%M 38498292
%F 3.017
%R 10.1007/s10048-024-00754-y
%X Mannosyl-oligosaccharide glucosidase - congenital disorder of glycosylation (MOGS-CDG) is determined by biallelic mutations in the mannosyl-oligosaccharide glucosidase (glucosidase I) gene. MOGS-CDG is a rare disorder affecting the processing of N-Glycans (CDG type II) and is characterized by prominent neurological involvement including hypotonia, developmental delay, seizures and movement disorders. To the best of our knowledge, 30 patients with MOGS-CDG have been published so far. We described a child who is compound heterozygous for two novel variants in the MOGS gene. He presented Early Infantile Developmental and Epileptic Encephalopathy (EI-DEE) in the absence of other specific systemic involvement and unrevealing first-line biochemical findings. In addition to the previously described features, the patient presented a Hirschprung disease, never reported before in individuals with MOGS-CDG.