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.
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We are grateful to the patient’s family for participating in this study.
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F.T., U.C, and A.V. conducted the whole project. F.T. wrote the manuscript. C.V., U.C., A.V. and R.B. contributed to the manuscript through writing or correction. M.I. performed and interpreted the WES. A.P., F.T. and S.M. were referent clinicians for the patient and family. I.C. analyzed the video-EEG recordings. P.D. performed and discussed brain MRI. L.S. and R.B. performed and interpreted the metabolic analysis. All authors reviewed the manuscript.
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Teutonico, F., Volpe, C., Proto, A. et al. Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA. Neurogenetics (2024). https://doi.org/10.1007/s10048-024-00754-y
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DOI: https://doi.org/10.1007/s10048-024-00754-y