{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T20:03:12Z","timestamp":1790798592343,"version":"4.1.0"},"reference-count":44,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,10,17]],"date-time":"2022-10-17T00:00:00Z","timestamp":1665964800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01DK99551,U54NS115198(HF)"],"award-info":[{"award-number":["R01DK99551,U54NS115198(HF)"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital disorders of glycosylation (CDG) are a group of heterogeneous inherited metabolic disorders affecting posttranslational protein modification. DDOST\u2010CDG, caused by biallelic pathogenic variants in <jats:italic>DDOST<\/jats:italic> which encodes dolichyl\u2010diphospho\u2010oligosaccharide\u2010protein glycosyltransferase, a subunit of N\u2010glycosylation oligosaccharyltransferase (OST) complex, is an ultra\u2010rare condition that has been described in two patients only. The main clinical features in the two reported patients include profound developmental delay, failure to thrive, and hypotonia. In addition, both patients had abnormal transferrin glycosylation. Here, we report an 18\u2010year\u2010old male who presented with moderate developmental delay, progressive opsoclonus, myoclonus, ataxia, tremor, and dystonia. Biochemical studies by carbohydrate deficient transferrin analysis showed a type I CDG pattern. Exome sequencing identified compound heterozygous variants in <jats:italic>DDOST<\/jats:italic>: a maternally inherited variant, c.1142dupT (p.Leu381Phefs*11), and a paternally inherited variant, c.661\u2009T\u2009&gt;\u2009C (p.Ser221Pro). Plasma N\u2010glycan profiling showed mildly increased small high mannose glycans including Man<jats:sub>0\u20105<\/jats:sub>GlcNAc<jats:sub>2,<\/jats:sub> a pattern consistent with what was previously reported in DDOST\u2010CDG or defects in other subunits of OST complex. Western blot analysis on patient's fibroblasts revealed decreased expression of DDOST and reduced intracellular N\u2010glycosylation, as evident by the biomarkers ICAM\u20101 and LAMP2. Our study highlights the clinical variability, expands the clinical and biochemical phenotypes, and describes new genotype, which all are essential for diagnosing and managing patients with DDOST\u2010CDG.<\/jats:p>","DOI":"10.1002\/jimd.12565","type":"journal-article","created":{"date-parts":[[2022,10,10]],"date-time":"2022-10-10T14:39:28Z","timestamp":1665412768000},"page":"92-100","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["<scp>DDOST\u2010CDG<\/scp>: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype"],"prefix":"10.1002","volume":"46","author":[{"given":"Ibrahim","family":"Elsharkawi","sequence":"first","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics St. Louis Children's Hospital, Washington University School of Medicine  St. Louis Missouri USA"},{"name":"Mitochondrial Medicine Frontier 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