{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:22:04Z","timestamp":1747146124763,"version":"3.40.5"},"reference-count":19,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2021,5,7]],"date-time":"2021-05-07T00:00:00Z","timestamp":1620345600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The pathophysiology of congenital defects of glycosylation (CDG) is complex and the diagnosis has been a challenge because of the overlapping clinical signs and symptoms as well as a large number of disorders. Isoelectric focusing of transferrin has been used as a screening method but has limitations. Individual enzyme or molecular genetic tests have been difficult to perform. In this study, we aimed to describe CDG patients who were referred to from different departments either without a preliminary diagnosis or suspected to have a genetic disorder other than CDG. The patients were diagnosed mainly with a 450 gene next\u2010generation DNA sequencing panel for inborn errors of metabolism, which also included 25 genes for CDG. A total of 862 patients were investigated with the panel, whereby homozygous (10) or compound heterozygous (4) mutations were found in a total of 14 (1.6%) patients. A total of 13 different mutations were discovered, 10 of them being novel. Interestingly, none of the patients was suspected to have a CDG before referral. This report expands the clinical\/laboratory findings in patients with CDG and stresses on the fact that CDG should be in the differential list for pediatric patients presented with nonspecific dysmorphic features and neurological delays\/regression. Also, next\u2010generation DNA sequencing with panel approach was noticed to have a significant diagnostic potential in patients presented with nonspecific neurologic and dysmorphic findings.<\/jats:p>","DOI":"10.1002\/ajmg.a.62247","type":"journal-article","created":{"date-parts":[[2021,5,8]],"date-time":"2021-05-08T18:52:19Z","timestamp":1620499939000},"page":"2739-2747","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Congenital defects of glycosylation: Novel presentations with mainly neurological involvement and variable dysmorphic features"],"prefix":"10.1002","volume":"185","author":[{"given":"Asl\u0131","family":"\u0130nci","sequence":"first","affiliation":[{"name":"Faculty of Medicine, Department of Metabolic Diseases Gazi University  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ba\u015fak","family":"Cengiz","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Metabolic Diseases Gazi University  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00fcrsel","family":"Bibero\u011flu","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Metabolic Diseases Gazi University  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u0130lyas","family":"Okur","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Metabolic Diseases Gazi University  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ebru","family":"Arhan","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Pediatric Neurology Gazi University  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali Yusuf","family":"\u00d6ner","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Radiology Gazi University  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c7i\u011fdem Seher","family":"Kasapkara","sequence":"additional","affiliation":[{"name":"Y\u0131ld\u0131r\u0131m Beyaz\u0131t University Department of Metabolic Disorders  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aynur","family":"K\u00fc\u00e7\u00fck\u00e7ongar","sequence":"additional","affiliation":[{"name":"Ankara City Hospital Department of Metabolic Disorders  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leyla","family":"T\u00fcmer","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Metabolic Diseases Gazi University  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9497-3118","authenticated-orcid":false,"given":"Fatih","family":"Ezgu","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Metabolic Diseases Gazi University  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,5,7]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_9_2_1","DOI":"10.1053\/ejpn.2001.0483"},{"doi-asserted-by":"publisher","key":"e_1_2_9_3_1","DOI":"10.21037\/atm.2018.10.45"},{"doi-asserted-by":"publisher","key":"e_1_2_9_4_1","DOI":"10.1002\/ana.21482"},{"doi-asserted-by":"publisher","key":"e_1_2_9_5_1","DOI":"10.1086\/302938"},{"doi-asserted-by":"publisher","key":"e_1_2_9_6_1","DOI":"10.1016\/j.ajhg.2013.10.024"},{"doi-asserted-by":"publisher","key":"e_1_2_9_7_1","DOI":"10.1016\/j.pcl.2017.11.012"},{"key":"e_1_2_9_8_1","article-title":"Reflections on a career in dysmorphology, teratology and clinical genetics","author":"Graham J. 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