{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,2]],"date-time":"2026-03-02T10:17:06Z","timestamp":1772446626589,"version":"3.50.1"},"reference-count":34,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,4,5]],"date-time":"2024-04-05T00:00:00Z","timestamp":1712275200000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Glycogen storage diseases (GSDs) are abnormally inherited glycogen metabolism mainly affecting the liver, muscles, and heart. Deficiency of proteins involved in glycogen metabolism caused by genetic mutations are responsible for different subtype of GSDs. However, there are still some challenges in diagnosing GSD. This study includes 39 suspected GSDs patients from unrelated families in China. Next\u2010generation sequencing (NGS) was used to investigate the reason for their diseases at the genetic level. Finally, all 39 patients were diagnosed with GSDs, including 20 GSD\u2010Ia, 4 GSD\u2010VI, and 15 GSD IX (12 GSD\u2010IXa patients and 3 GSD\u2010IXb patients). Thirty\u2010two mutations in <jats:italic>G6PC1<\/jats:italic>, <jats:italic>PYGL<\/jats:italic>, <jats:italic>PHKA2<\/jats:italic>, and <jats:italic>PHKB<\/jats:italic> genes were identified, with 14 of them being novel variants. The pathogenicity of novel variants was classified according to ACMG guildlines and predicted by <jats:italic>in slico<\/jats:italic> algorithms. Mutations p.L216L and p.R83H in <jats:italic>G6PC1<\/jats:italic> gene may be the hot spot mutation in Chinese. Hearing impairment is a rare clinical feature of GSD Ia, which has also been observed in our cohort. The severity of GSD VI and IX was indicated by our patients. Close follow\u2010up should be applied to GSD VI and IX patients. Our findings provided evidence for building the phenotype\u2013genotype of GSDs and expanded the mutation spectrum of related genes.<\/jats:p>","DOI":"10.1111\/cge.14530","type":"journal-article","created":{"date-parts":[[2024,4,5]],"date-time":"2024-04-05T07:38:32Z","timestamp":1712302712000},"page":"267-276","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, <scp>VI<\/scp>, and <scp>IX<\/scp>"],"prefix":"10.1111","volume":"106","author":[{"given":"Jindan","family":"Yu","sequence":"first","affiliation":[{"name":"Gastroenterology Department, Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health  Hangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiuxin","family":"Ling","sequence":"additional","affiliation":[{"name":"Grandomics Biosciences  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lingli","family":"Chen","sequence":"additional","affiliation":[{"name":"Gastroenterology Department, Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health  Hangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Youhong","family":"Fang","sequence":"additional","affiliation":[{"name":"Gastroenterology Department, Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health  Hangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haihua","family":"Lin","sequence":"additional","affiliation":[{"name":"Gastroenterology Department, Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health  Hangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jingan","family":"Lou","sequence":"additional","affiliation":[{"name":"Gastroenterology Department, Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health  Hangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanqi","family":"Ren","sequence":"additional","affiliation":[{"name":"Grandomics Biosciences  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5929-7262","authenticated-orcid":false,"given":"Jie","family":"Chen","sequence":"additional","affiliation":[{"name":"Gastroenterology Department, Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health  Hangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,4,5]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/mco.0000000000000181"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010018\u20100364\u20102"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010022\u201002431\u20105"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.3748\/wjg.v13.i18.2541"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010020\u201001573\u20108"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.932760"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2021.117391"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22094381"},{"key":"e_1_2_12_10_1","unstructured":"StoneWL BasitH AdilA.Glycogen Storage Disease. In StatPearls. Treasure Island (FL) ineligible companies. Disclosure: Hajira Basit declares no relevant financial relationships with ineligible companies. Disclosure: Abdullah Adil declares no relevant financial relationships with ineligible companies.: StatPearls Publishing.2023."},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471250953.bi1110s43"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.2174\/1566524024605761"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.8211187"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M201853200"},{"issue":"3","key":"e_1_2_12_15_1","first-page":"549","article-title":"Exon redefinition by a point mutation within exon 5 of the glucose\u20106\u2010phosphatase gene is the major cause of glycogen storage disease type 1a in Japan","volume":"57","author":"Kajihara S","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1155\/2022\/5870092"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20772"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2013.17"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010020\u20101321\u20100"},{"key":"e_1_2_12_20_1","first-page":"34","article-title":"Novel mutations of the G6PC gene in Malaysians with glycogen storage disease 1a (GSD1a)","volume":"40","author":"Abd Rahman AA","year":"2021","journal-title":"Genet Res"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.3109\/01913123.2011.601404"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12121987"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1097\/md.0000000000025520"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem\u20102020\u20100173"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010007\u20100499\u20109"},{"key":"e_1_2_12_26_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12081205"},{"key":"e_1_2_12_27_1","doi-asserted-by":"publisher","DOI":"10.2741\/brushia"},{"key":"e_1_2_12_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.1.77"},{"key":"e_1_2_12_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/bf02106291"},{"key":"e_1_2_12_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2013.08.026"},{"key":"e_1_2_12_31_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem\u20102021\u20100278"},{"key":"e_1_2_12_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2020.10.004"},{"key":"e_1_2_12_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.06.015"},{"key":"e_1_2_12_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.06.007"},{"key":"e_1_2_12_35_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23179944"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14530","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,13]],"date-time":"2024-08-13T02:12:41Z","timestamp":1723515161000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14530"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,5]]},"references-count":34,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,9]]}},"alternative-id":["10.1111\/cge.14530"],"URL":"https:\/\/doi.org\/10.1111\/cge.14530","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,4,5]]},"assertion":[{"value":"2024-01-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-28","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-05","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}