{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T00:07:45Z","timestamp":1769731665805,"version":"3.49.0"},"reference-count":13,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T00:00:00Z","timestamp":1672272000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Congenital disorder of glycosylation (CDG) and Glycogen storage diseases (GSDs) are inborn metabolic disorders caused by defects in some metabolic pathways. These disorders are a heterogeneous group of diseases caused by impaired O\u2010 as well as N\u2010glycosylation pathways. CDG patients show a broad spectrum of clinical presentations; many GSD types (PGM1\u2010CDG) have muscle involvement and hypoglycemia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We applied WES for all seven patients presenting GSD and CDG symptoms. Then we analyzed the data using various tools to predict pathogenic variants in genes related to the patients' diseases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In the present study, we identified pathogenic variants in Iranian patients suffering from GSD and CDG, which can be helpful for patient management, and family counseling. We detected seven pathogenic variants using whole exome sequencing (WES) in known <jats:italic>AGL<\/jats:italic> (c.1998A&gt;G, c.3635T&gt;C, c.3682C&gt;T), <jats:italic>PGM1<\/jats:italic> (c.779G&gt;A), <jats:italic>DPM1<\/jats:italic> (c.742T&gt;C), <jats:italic>RFT1<\/jats:italic> (c.127A&gt;G), and <jats:italic>GAA<\/jats:italic> (c.1314C&gt;A) genes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The suspected clinical diagnosis of CDG and GSD patients was confirmed by identifying missense and or nonsense mutations in <jats:italic>PGM1<\/jats:italic>, <jats:italic>DPM1<\/jats:italic>, <jats:italic>RFT1<\/jats:italic>, <jats:italic>GAA<\/jats:italic>, and <jats:italic>AGL<\/jats:italic> genes by WES of all 7 cases. This study helps us understand the scenario of the disorder causes and consider the variants for quick disease diagnosis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2099","type":"journal-article","created":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T08:20:39Z","timestamp":1672302039000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5587-0682","authenticated-orcid":false,"given":"Atefe","family":"Papi","sequence":"first","affiliation":[{"name":"Department of Genetics, Faculty of Science Shahid Chamran University of Ahvaz  Ahvaz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mina","family":"Zamani","sequence":"additional","affiliation":[{"name":"Department of Genetics, Faculty of Science Shahid Chamran University of Ahvaz  Ahvaz Iran"},{"name":"Narges Medical Genetics and Prenatal Diagnosis Laboratory  Ahvaz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gholamreza","family":"Shariati","sequence":"additional","affiliation":[{"name":"Narges Medical Genetics and Prenatal Diagnosis Laboratory  Ahvaz Iran"},{"name":"Department of Medical Genetics Jundishapur University of medical Sciences  Ahvaz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alireza","family":"Sedaghat","sequence":"additional","affiliation":[{"name":"Narges Medical Genetics and Prenatal Diagnosis Laboratory  Ahvaz Iran"},{"name":"Health Research Institute, Diabetes Research Center Jundishapur University of Medical Sciences  Ahvaz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tahere","family":"Seifi","sequence":"additional","affiliation":[{"name":"Department of Genetics, Faculty of Science Shahid Chamran University of Ahvaz  Ahvaz Iran"},{"name":"Narges Medical Genetics and Prenatal Diagnosis Laboratory  Ahvaz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samira","family":"Negahdari","sequence":"additional","affiliation":[{"name":"Narges Medical Genetics and Prenatal Diagnosis Laboratory  Ahvaz Iran"},{"name":"Legal Medicine Research Center Legal Medicine Organization  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sahar Sadat","family":"Sedighzadeh","sequence":"additional","affiliation":[{"name":"Department of Genetics, Faculty of Science Shahid Chamran University of Ahvaz  Ahvaz Iran"},{"name":"Narges Medical Genetics and Prenatal Diagnosis Laboratory  Ahvaz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jawaher","family":"Zeighami","sequence":"additional","affiliation":[{"name":"Narges Medical Genetics and Prenatal Diagnosis Laboratory  Ahvaz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alihossein","family":"Saberi","sequence":"additional","affiliation":[{"name":"Narges Medical Genetics and Prenatal Diagnosis Laboratory  Ahvaz Iran"},{"name":"Department of Medical Genetics Jundishapur University of medical Sciences  Ahvaz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4625-0713","authenticated-orcid":false,"given":"Mohammad","family":"Hamid","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, Biotechnology Research Center Pasteur Institute of Iran  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hamid","family":"Galehdari","sequence":"additional","affiliation":[{"name":"Department 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