{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T00:18:07Z","timestamp":1780100287710,"version":"3.54.0"},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,2,25]],"date-time":"2020-02-25T00:00:00Z","timestamp":1582588800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Glycogen storage disease type 0 (GSD 0) is an autosomal recessive disorder of glycogen metabolism caused by mutations in the <jats:italic>GYS2<\/jats:italic> gene manifesting in infancy or early childhood and characterized by ketotic hypoglycemia after prolonged fasting, and postprandial hyperglycemia and hyperlactatemia. GSD 0 is a rare form of hepatic glycogen storage disease with less than 30 reported patients in the literature so far.<\/jats:p><jats:p>DNA samples of 93 Russian patients with clinical diagnoses of hepatic GSDs were collected and analyzed by next\u2010generation sequencing custom target panel and by direct sequencing. Seven new GSD 0 patients with variable phenotypes were found showing 10 variants. Seven variants are novel.<\/jats:p><jats:p>We present seven new GSD 0 patients with variable phenotypes. Overall, 10 different mutant alleles of the <jats:italic>GYS2<\/jats:italic> gene were found. Seven of them are novel: c.214delC, c.845delT, c.1644C&gt;A, c.205T&gt;A, c.929G&gt;T, c.1169G&gt;C and c.1703C&gt;A. Three of the novel variants were annotated as pathogenic and likely pathogenic; four other variants have an uncertain significance.<\/jats:p><jats:p>The current results expand the spectrum of known mutations in <jats:italic>GYS2<\/jats:italic> and suggest that phenotypes of GSD 0 are more variable and less specific than the reported ones.<\/jats:p><\/jats:sec><jats:sec><jats:title>Synopsis<\/jats:title><jats:p>Seven new patients with glycogen storage disease type 0 were found using next\u2010generation sequencing and seven novel variants of <jats:italic>GYS2<\/jats:italic> gene were annotated.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jmd2.12082","type":"journal-article","created":{"date-parts":[[2020,2,25]],"date-time":"2020-02-25T19:04:40Z","timestamp":1582657480000},"page":"39-44","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variants"],"prefix":"10.1002","volume":"53","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6210-0280","authenticated-orcid":false,"given":"Elena A.","family":"Kamenets","sequence":"first","affiliation":[{"name":"Research Centre for Medical Genetics Federal State Budgetary Institution  Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena A.","family":"Gusarova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics Federal State Budgetary Institution  Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia V.","family":"Milovanova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics Federal State Budgetary Institution  Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yulia S.","family":"Itkis","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics Federal State Budgetary Institution  Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatiana V.","family":"Strokova","sequence":"additional","affiliation":[{"name":"Federal Research Center for Nutrition and Biotechnology Federal State Budgetary Institution  Moscow Russia"},{"name":"Pirogov Russian National Research Medical University Federal State Budgetary Institution  Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria A.","family":"Melikyan","sequence":"additional","affiliation":[{"name":"National Research Center for Endocrinology Federal State Budgetary Institution  Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina V.","family":"Garyaeva","sequence":"additional","affiliation":[{"name":"Morozov municipal children's Hospital of Moscow City Federal State Budgetary Institution  Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina G.","family":"Rybkina","sequence":"additional","affiliation":[{"name":"Morozov municipal children's Hospital of Moscow City Federal State Budgetary Institution  Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia V.","family":"Nikitina","sequence":"additional","affiliation":[{"name":"Clinical\u2010Diagnostic Center of Mother and Child Health Protection Federal State Budgetary Institution  Yekaterinburg Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekaterina Y.","family":"Zakharova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics Federal State Budgetary Institution  Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,2,25]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2016-0317"},{"key":"e_1_2_8_3_1","first-page":"1981","article-title":"Inborn errors of metabolism in infancy and 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