Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA

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 promin...

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Bibliographic Details
Published in:Neurogenetics 2024-07, Vol.25 (3), p.281-286
Main Authors: Teutonico, Federica, Volpe, Clara, Proto, Alice, Costi, Ilaria, Cavallari, Ugo, Doneda, Paola, Iascone, Maria, Sturiale, Luisella, Barone, Rita, Martinelli, Stefano, Vignoli, Aglaia
Format: Article
Language:English
Subjects:
Amino acids
Biopsy
Child development
Chromatography
Congenital diseases
Convulsions & seizures
Electroencephalography
Encephalopathy
Epilepsy
Genomes
Glycosylation
Health sciences
Kinases
Mannosyl-oligosaccharide glucosidase
Movement disorders
N-glycans
Neurological diseases
Patients
Polysaccharides
Seizures
Whole genome sequencing
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Summary: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.
ISSN:1364-6745
1364-6753
DOI:10.1007/s10048-024-00754-y