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This causes mislocalization of the glucose\u20106\u2010phosphate transporter to the Golgi leading to a congenital disorder of glycosylation type\u2009II (SLC37A4\u2010CDG). Only one patient has been reported showing liver disease that improved with age and mild dysmorphism. Here we report the second patient with a type\u2009II CDG caused by the same heterozygous de\u2009novo c.1267C&gt;T (p.R423*) mutation thereby confirming the pathogenicity of this variant and expanding the clinical picture with type 1 diabetes, severe scoliosis, and membranoproliferative glomerulonephritis. Additional clinical and biochemical data provide further insight into the mechanism and prognosis of SLC37A4\u2010CDG.<\/jats:p>","DOI":"10.1002\/jmd2.12195","type":"journal-article","created":{"date-parts":[[2021,1,9]],"date-time":"2021-01-09T19:52:36Z","timestamp":1610221956000},"page":"122-128","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["<scp>SLC37A4\u2010CDG<\/scp>: Second patient"],"prefix":"10.1002","volume":"58","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2252-8730","authenticated-orcid":false,"given":"Matthew P.","family":"Wilson","sequence":"first","affiliation":[{"name":"Laboratory for Molecular Diagnosis Center for Human Genetics, KU Leuven  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dulce","family":"Quelhas","sequence":"additional","affiliation":[{"name":"Centro de Genetica Medica Jacinto de Magalhaes, Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Le\u00e3o\u2010Teles","sequence":"additional","affiliation":[{"name":"Centro de Refer\u00eancia de Doen\u00e7as Heredit\u00e1rias do Metabolismo, Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"Sturiale","sequence":"additional","affiliation":[{"name":"CNR, Institute for Polymers, Composites and Biomaterials (IPCB)  Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daisy","family":"Rymen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Center for Metabolic Diseases, University Hospitals Leuven  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liesbeth","family":"Keldermans","sequence":"additional","affiliation":[{"name":"Laboratory for Molecular Diagnosis Center for Human Genetics, KU Leuven  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Race","sequence":"additional","affiliation":[{"name":"Laboratory for Molecular Diagnosis Center for Human Genetics, KU Leuven  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erika","family":"Souche","sequence":"additional","affiliation":[{"name":"Laboratory for Molecular Diagnosis Center for Human Genetics, KU Leuven  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esmeralda","family":"Rodrigues","sequence":"additional","affiliation":[{"name":"Centro de Refer\u00eancia de Doen\u00e7as Heredit\u00e1rias do Metabolismo, Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Campos","sequence":"additional","affiliation":[{"name":"Centro de Refer\u00eancia de Doen\u00e7as Heredit\u00e1rias do Metabolismo, Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emile","family":"Van Schaftingen","sequence":"additional","affiliation":[{"name":"De Duve Institute, UCLouvain  Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7ois","family":"Foulquier","sequence":"additional","affiliation":[{"name":"Univ. Lille, CNRS, UMR 8576, UGSF, Unit\u00e9 de Glycobiologie Structurale et Fonctionnelle  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domenico","family":"Garozzo","sequence":"additional","affiliation":[{"name":"CNR, Institute for Polymers, Composites and Biomaterials (IPCB)  Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gert","family":"Matthijs","sequence":"additional","affiliation":[{"name":"Laboratory for Molecular Diagnosis Center for Human Genetics, KU Leuven  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaak","family":"Jaeken","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Center for Metabolic Diseases, University Hospitals Leuven  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,1,6]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200366"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9772-x"},{"key":"e_1_2_9_4_1","volume-title":"Glycogen storage disease type I","author":"Bali DS"},{"key":"e_1_2_9_5_1","article-title":"SLC37A4\u2010CDG: mislocalization of the glucose\u20106\u2010phosphate transporter to the Golgi causes a new congenital disorder of glycosylation","volume":"25","author":"Marquardt T","year":"2020","journal-title":"Mol Genet Metab Rep"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2003.021568"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pmic.200700496"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2007.227"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/glycob\/cwg079"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/20.12.3008"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M006439200"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0603248103"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M109.006254"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj3620513"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddw026"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.11.003"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.immuni.2007.06.008"}],"container-title":["JIMD Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12195","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jmd2.12195","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12195","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,2]],"date-time":"2023-09-02T16:19:23Z","timestamp":1693671563000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jmd2.12195"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,6]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,3]]}},"alternative-id":["10.1002\/jmd2.12195"],"URL":"https:\/\/doi.org\/10.1002\/jmd2.12195","archive":["Portico"],"relation":{},"ISSN":["2192-8312","2192-8312"],"issn-type":[{"value":"2192-8312","type":"print"},{"value":"2192-8312","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,1,6]]},"assertion":[{"value":"2020-10-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-12-16","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-01-06","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}