{Reference Type}: Journal Article
{Title}: 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.
{Author}: Teutonico F;Volpe C;Proto A;Costi I;Cavallari U;Doneda P;Iascone M;Sturiale L;Barone R;Martinelli S;Vignoli A;
{Journal}: Neurogenetics
{Volume}: 25
{Issue}: 3
{Year}: 2024 Jul 18
{Factor}: 3.017
{DOI}: 10.1007/s10048-024-00754-y
{Abstract}: 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.