{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T16:53:47Z","timestamp":1770742427876,"version":"3.49.0"},"reference-count":29,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,9,21]],"date-time":"2022-09-21T00:00:00Z","timestamp":1663718400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003653","name":"Korea National Institute of Health","doi-asserted-by":"publisher","award":["R01DK99551"],"award-info":[{"award-number":["R01DK99551"]}],"id":[{"id":"10.13039\/501100003653","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Here, we present the first two Swedish cases of Conserved Oligomeric Golgi complex subunit 6\u2010congenital disorders of glycosylation (COG6\u2010CDG). Their clinical symptoms include intellectual disability, Attention Deficit\/Hyperactivity Disorder (ADHD), delayed brain myelinization, progressive microcephaly, joint laxity, hyperkeratosis, frequent infections, and enamel hypoplasia. In one family, compound heterozygous variants in<jats:italic>COG6<\/jats:italic>were identified, where one (c.785A&gt;G; p.Tyr262Cys) has previously been described in patients of Moroccan descent, whereas the other (c.238G&gt;A; p.Glu80Lys) is undescribed. On the other hand, a previously undescribed homozygous duplication (c.1793_1795dup) was deemed the cause of the disease. To confirm the pathogenicity of the variants, we treated patient and control fibroblasts with the ER\u2010Golgi transport inhibitor Brefeldin\u2010A and show that patient cells manifest a significantly slower anterograde and retrograde ER\u2010Golgi transport.<\/jats:p>","DOI":"10.1002\/jmd2.12338","type":"journal-article","created":{"date-parts":[[2022,9,22]],"date-time":"2022-09-22T06:12:16Z","timestamp":1663827136000},"page":"79-89","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["The Swedish<scp>COG6\u2010CDG<\/scp>experience and a comprehensive literature review"],"prefix":"10.1002","volume":"64","author":[{"given":"Zhi\u2010Jie","family":"Xia","sequence":"first","affiliation":[{"name":"Sanford Burnham Prebys Medical Discovery Institute La Jolla California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bobby G.","family":"Ng","sequence":"additional","affiliation":[{"name":"Sanford Burnham 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