{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T01:05:08Z","timestamp":1778893508447,"version":"3.51.4"},"reference-count":22,"publisher":"Walter de Gruyter GmbH","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,3,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2017-0170_s_999_w2aab3b7c18b1b6b1aab1c17b1Aa\">\n                  <jats:title>Background:<\/jats:title>\n                  <jats:p>\n                     <jats:italic>PHKG2<\/jats:italic> gene mutation can lead to liver phosphorylase kinase (PhK) deficiency, which is related to glycogen storage disease type IX (GSD IX). GSD IXc due to <jats:italic>PHKG2<\/jats:italic> mutation is the second most common GSD IX.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2017-0170_s_998_w2aab3b7c18b1b6b1aab1c17b2Aa\">\n                  <jats:title>Methods:<\/jats:title>\n                  <jats:p>We identified a novel mutation (c.553C&gt;T, p.Arg185X) in <jats:italic>PHKG2<\/jats:italic> in a Chinese family and verified it by next-generation and Sanger sequencing. The mutation spectrum of the <jats:italic>PHKG2<\/jats:italic> gene was summarized based on 25 GSD IXc patients with <jats:italic>PHKG2<\/jats:italic> mutations.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2017-0170_s_997_w2aab3b7c18b1b6b1aab1c17b3Aa\">\n                  <jats:title>Results:<\/jats:title>\n                  <jats:p>We found that missense mutation (39%) was the most common type of mutation, followed by nonsense mutation (23%). Mutations were more prevalent in Asian (12\/25) and European (9\/25) populations than in populations from elsewhere. The exons had more sites of mutation than the introns, and exons 3 and 6 were the most frequent sites of mutations.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2017-0170_s_996_w2aab3b7c18b1b6b1aab1c17b4Aa\">\n                  <jats:title>Conclusions:<\/jats:title>\n                  <jats:p>This study expands our knowledge of the <jats:italic>PHKG2<\/jats:italic> gene mutation spectrum, providing a molecular basis for GSD IXc.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2017-0170","type":"journal-article","created":{"date-parts":[[2018,1,23]],"date-time":"2018-01-23T22:16:47Z","timestamp":1516745807000},"page":"331-338","source":"Crossref","is-referenced-by-count":24,"title":["<i>PHKG2<\/i> mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature"],"prefix":"10.1515","volume":"31","author":[{"given":"Chunyun","family":"Li","sequence":"first","affiliation":[{"name":"Department of Pediatrics , The Third Xiangya Hospital , Central South University , Changsha , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lihua","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of the Center for Medical Experiments , The Third Xiangya Hospital , Central South University , Changsha , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lang","family":"Tian","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , The Third Xiangya Hospital , Central South University , Changsha , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jia","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , The Third Xiangya Hospital , Central South University , Changsha , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shentang","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , The Third Xiangya Hospital , Central South University , Changsha , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zuocheng","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , The Third Xiangya Hospital , Central South University , Changsha , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2018,1,23]]},"reference":[{"key":"2021021317394297907_j_jpem-2017-0170_ref_001_w2aab3b7c18b1b6b1ab2b2b1Aa","doi-asserted-by":"crossref","unstructured":"Maichele AJ, Burwinkel B, Maire I, Sovik O, Kilimann MW. Mutations in the testis\/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans. Nature Genet 1996;14:337\u201340.","DOI":"10.1038\/ng1196-337"},{"key":"2021021317394297907_j_jpem-2017-0170_ref_002_w2aab3b7c18b1b6b1ab2b2b2Aa","doi-asserted-by":"crossref","unstructured":"Burwinkel B, Shiomi S, Al Zaben A, Kilimann MW. Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. Hum Mol Gen 1998;7:149\u201354.","DOI":"10.1093\/hmg\/7.1.149"},{"key":"2021021317394297907_j_jpem-2017-0170_ref_003_w2aab3b7c18b1b6b1ab2b2b3Aa","doi-asserted-by":"crossref","unstructured":"Albash B, Imtiaz F, Al-Zaidan H, Al-Manea H, Banemai M, et al. Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature. Eur J Pediatr 2014;173:647\u201353.","DOI":"10.1007\/s00431-013-2223-0"},{"key":"2021021317394297907_j_jpem-2017-0170_ref_004_w2aab3b7c18b1b6b1ab2b2b4Aa","doi-asserted-by":"crossref","unstructured":"Bali DS, Goldstein JL, Fredrickson K, Rehder C, Boney A, et al. Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene. Mol Genet Metab 2014;111:309\u201313.","DOI":"10.1016\/j.ymgme.2013.12.008"},{"key":"2021021317394297907_j_jpem-2017-0170_ref_005_w2aab3b7c18b1b6b1ab2b2b5Aa","doi-asserted-by":"crossref","unstructured":"Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009;25: 1754\u201360.","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"2021021317394297907_j_jpem-2017-0170_ref_006_w2aab3b7c18b1b6b1ab2b2b6Aa","doi-asserted-by":"crossref","unstructured":"Ogino S, Gulley ML, den Dunnen JT, Wilson RB. Standard mutation nomenclature in molecular diagnostics: practical and educational challenges. J Mol Diagn 2007;9:1\u20136.","DOI":"10.2353\/jmoldx.2007.060081"},{"key":"2021021317394297907_j_jpem-2017-0170_ref_007_w2aab3b7c18b1b6b1ab2b2b7Aa","doi-asserted-by":"crossref","unstructured":"Sovik O, deBarsy T, Maehle B. Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance. Eur J Pediatr 1982;139:210.","DOI":"10.1007\/BF01377363"},{"key":"2021021317394297907_j_jpem-2017-0170_ref_008_w2aab3b7c18b1b6b1ab2b2b8Aa","doi-asserted-by":"crossref","unstructured":"van Beurden EA, de Graaf M, Wendel U, Gitzelmann R, Berger R, et al. Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2). Biochem Biophys Res Commun 1997;236:544\u20138.","DOI":"10.1006\/bbrc.1997.7006"},{"key":"2021021317394297907_j_jpem-2017-0170_ref_009_w2aab3b7c18b1b6b1ab2b2b9Aa","doi-asserted-by":"crossref","unstructured":"Shiomi S, Saeki Y, Kim K, Nishiguchi S, Seki S, et al. A female case of type VIII glycogenosis who developed cirrhosis of the liver and hepatocellular tumor. Gastroenterol Jpn 1989;24:711\u20134.","DOI":"10.1007\/BF02774172"},{"key":"2021021317394297907_j_jpem-2017-0170_ref_010_w2aab3b7c18b1b6b1ab2b2c10Aa","doi-asserted-by":"crossref","unstructured":"Kagalwalla AF, Kagalwalla YA, Al Ajaji S, Gorka W, Ali MA. Phosphorylase b kinase deficiency glycogenosis with cirrhosis of the liver. J Pediatr 1995;127:602\u20135.","DOI":"10.1016\/S0022-3476(95)70123-0"},{"key":"2021021317394297907_j_jpem-2017-0170_ref_011_w2aab3b7c18b1b6b1ab2b2c11Aa","doi-asserted-by":"crossref","unstructured":"Burwinkel B, Tanner MS, Kilimann MW. Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R). J Med Genet 2000;37:376\u20137.","DOI":"10.1136\/jmg.37.5.376"},{"key":"2021021317394297907_j_jpem-2017-0170_ref_012_w2aab3b7c18b1b6b1ab2b2c12Aa","doi-asserted-by":"crossref","unstructured":"Burwinkel B, Rootwelt T, Kvittingen EA, Chakraborty PK, Kilimann MW. Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene. Pediatr Res 2003;54:834\u20139.","DOI":"10.1203\/01.PDR.0000088069.09275.10"},{"key":"2021021317394297907_j_jpem-2017-0170_ref_013_w2aab3b7c18b1b6b1ab2b2c13Aa","doi-asserted-by":"crossref","unstructured":"Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, et al. Glycogen storage disease type IX: high variability in clinical phenotype. Mol Genet Metab 2007;92: 88\u201399.","DOI":"10.1016\/j.ymgme.2007.06.007"},{"key":"2021021317394297907_j_jpem-2017-0170_ref_014_w2aab3b7c18b1b6b1ab2b2c14Aa","doi-asserted-by":"crossref","unstructured":"Davit-Spraul A, Piraud M, Dobbelaere D, Valayannopoulos V, Labrune P, et al. Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies. Mol Genet Metab 2011;104:137\u201343.","DOI":"10.1016\/j.ymgme.2011.05.010"},{"key":"2021021317394297907_j_jpem-2017-0170_ref_015_w2aab3b7c18b1b6b1ab2b2c15Aa","doi-asserted-by":"crossref","unstructured":"Roscher A, Patel J, Hewson S, Nagy L, Feigenbaum A, et al. The natural history of glycogen storage disease types VI and IX: long-term outcome from the largest metabolic center in Canada. Mol Genet Metab 2014;113:171\u20136.","DOI":"10.1016\/j.ymgme.2014.09.005"},{"key":"2021021317394297907_j_jpem-2017-0170_ref_016_w2aab3b7c18b1b6b1ab2b2c16Aa","doi-asserted-by":"crossref","unstructured":"Kim JA, Kim JH, Lee BH, Kim GH, Shin YS, et al. Clinical, biochemical, and genetic characterization of glycogen storage type IX in a child with asymptomatic hepatomegaly. Pediatr Gastroenterol Hepatol Nutr 2015;18:138\u201343.","DOI":"10.5223\/pghn.2015.18.2.138"},{"key":"2021021317394297907_j_jpem-2017-0170_ref_017_w2aab3b7c18b1b6b1ab2b2c17Aa","doi-asserted-by":"crossref","unstructured":"Burda P, Hochuli M. Hepatic glycogen storage disorders: what have we learned in recent years? Curr Opin Clin Nutr Metab Care 2015;18:415\u201321.","DOI":"10.1097\/MCO.0000000000000181"},{"key":"2021021317394297907_j_jpem-2017-0170_ref_018_w2aab3b7c18b1b6b1ab2b2c18Aa","doi-asserted-by":"crossref","unstructured":"Minarich LA, Kirpich A, Fiske LM, Weinstein DA. Bone mineral density in glycogen storage disease type Ia and Ib. Genet Med 2012;14:737\u201341.","DOI":"10.1038\/gim.2012.36"},{"key":"2021021317394297907_j_jpem-2017-0170_ref_019_w2aab3b7c18b1b6b1ab2b2c19Aa","doi-asserted-by":"crossref","unstructured":"Beegle RD, Brown LM, Weinstein DA. Regression of hepatocellular adenomas with strict dietary therapy in patients with glycogen storage disease type I. JIMD Rep 2015;18:23\u201332.","DOI":"10.1007\/8904_2014_344"},{"key":"2021021317394297907_j_jpem-2017-0170_ref_020_w2aab3b7c18b1b6b1ab2b2c20Aa","doi-asserted-by":"crossref","unstructured":"Melis D, Pivonello R, Cozzolino M, Della Casa R, Balivo F, et al. Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1b. Horm Res Paediatr 2014;81:55\u201362.","DOI":"10.1159\/000351022"},{"key":"2021021317394297907_j_jpem-2017-0170_ref_021_w2aab3b7c18b1b6b1ab2b2c21Aa","doi-asserted-by":"crossref","unstructured":"Kasapkara CS, Aycan Z, Acoglu E, Senel S, Oguz MM, et al. The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency. J Pediatr Endocrinol Metab 2017;30:459\u201362.","DOI":"10.1515\/jpem-2016-0317"},{"key":"2021021317394297907_j_jpem-2017-0170_ref_022_w2aab3b7c18b1b6b1ab2b2c22Aa","doi-asserted-by":"crossref","unstructured":"Wang J, Cui H, Lee NC, Hwu WL, Chien YH, et al. Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin. Genet Med 2013;15:106\u201314.","DOI":"10.1038\/gim.2012.104"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.degruyter.com\/view\/j\/jpem.2018.31.issue-3\/jpem-2017-0170\/jpem-2017-0170.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2017-0170\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2017-0170\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,22]],"date-time":"2021-04-22T01:42:44Z","timestamp":1619055764000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2017-0170\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1,23]]},"references-count":22,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2018,1,23]]},"published-print":{"date-parts":[[2018,3,28]]}},"alternative-id":["10.1515\/jpem-2017-0170"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2017-0170","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2018,1,23]]}}}