DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature

We describe two patients with variants in theDPAGT1 gene: an 8-month-old boy with a homozygous, missenseDPAGT1:c.339T#x3e;G (p.Phe113Leu) novel variant and a 13-year-old female patient with compound heterozygous variants,DPAGT1:c.466C#x3e;T (p.Arg156Cys, R156C) andDPAGT1:c.161+5G#x3e;A. While the 8-month-old patient was diagnosed with congenital cataract at the age of 1 month, had dysmorphic findings, and epilepsy, clinical symptoms in the other patient appeared later but with more prominent muscle weakness, behavioral disorder, dysmorphic findings, and no epilepsy.Discussion: Cholinesterase inhibitor therapy was found to be effective in patients against muscle weakness, supportingDPAGT1 deficiency as the underlying etiology. We started pyridostigmine treatment in our patient with more pronounced muscle weakness, and we saw its benefit. We aimed to present our patients diagnosed with DPAGT1-CDG due to different variants in the same gene and different clinical presentations, treatment and to compare them with other patients in the literature.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research