{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T06:47:45Z","timestamp":1790232465107,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,5,24]],"date-time":"2014-05-24T00:00:00Z","timestamp":1400889600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,5]]},"abstract":"<jats:p>The conserved oligomeric Golgi (COG) complex is involved in intra\u2010Golgi retrograde trafficking, and mutations in six of its eight subunits have been reported in congenital disorders of glycosylation (CDG). Here we report a patient showing severe acquired microcephaly, psychomotor retardation, seizures, liver dysfunction, hypocupremia, and hypoceruloplasminemia. Analysis of his serum glycoproteins revealed defects in both sialylation and galactosylation of glycan termini. Trio\u2010based whole\u2010exome sequencing identified two heterozygous mutations in <jats:italic>COG2<\/jats:italic>: a <jats:italic>de novo<\/jats:italic> frameshift mutation [c.701dup (p.Tyr234*)] and a missense mutation [c.1900T\u2009&gt;\u2009G (p.Trp634Gly)]. Sequencing of cloned reverse\u2010transcription polymerase chain reaction (RT\u2010PCR) products revealed that both mutations were located on separate alleles, as expected, and that the mutant transcript harboring the frameshift mutation underwent degradation. The c.1900T\u2009&gt;\u2009G (p.Trp634Gly) mutation is located in a domain highly conserved among vertebrates and was absent from both the public database and our control exomes. Protein expression of COG2, along with COG3 and COG4, was decreased in fibroblasts from the patient. Our data strongly suggest that these compound heterozygous mutations in <jats:italic>COG2<\/jats:italic> are causative of CDG.<\/jats:p>","DOI":"10.1111\/cge.12417","type":"journal-article","created":{"date-parts":[[2014,4,30]],"date-time":"2014-04-30T12:42:40Z","timestamp":1398861760000},"page":"455-460","source":"Crossref","is-referenced-by-count":52,"title":["Mutations in <i><scp>COG2<\/scp><\/i> encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation"],"prefix":"10.1111","volume":"87","author":[{"given":"H.","family":"Kodera","sequence":"first","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Kanazawa\u2010ku Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Ando","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Neonatology Nagoya City University Graduate School of Medical Sciences  Nagoya Aichi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Yuasa","sequence":"additional","affiliation":[{"name":"Division of Legal Medicine, Faculty of Medicine Tottori University  Yonago Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Wada","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine Osaka Medical Center and Research Institute for Maternal and Child Health  Izumi Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Tsurusaki","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Kanazawa\u2010ku Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Nakashima","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Kanazawa\u2010ku Yokohama 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