{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T15:49:34Z","timestamp":1762876174651,"version":"3.41.2"},"reference-count":17,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2020,6,12]],"date-time":"2020-06-12T00:00:00Z","timestamp":1591920000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI18\/00598"],"award-info":[{"award-number":["PI18\/00598"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004687","name":"Universidad de Murcia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004687","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004687","name":"Universidad de Murcia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004687","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007801","name":"Fundaci\u00f3n S\u00e9neca","doi-asserted-by":"publisher","award":["19873\/GERM\/15"],"award-info":[{"award-number":["19873\/GERM\/15"]}],"id":[{"id":"10.13039\/100007801","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Congenital disorder of glycosylation (CDG) type I is a group of rare disorders caused by recessive mutations in up to 25 genes that impair the <jats:italic>N<\/jats:italic>\u2010glycan precursor formation and its transfer to proteins resulting in hypoglycosylation of multiple proteins. Congenital disorder of glycosylation causes multisystem defects usually with psychomotor delay that is diagnosed in the infancy. We aim to supply further evidences supporting that CDG may be underestimated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Antithrombin and factor XI were studied by chromogenic and coagulometric methods. Hypoglycosylation of plasma proteins was evaluated by western blot, HPLC, Q\u2010TOF, and RP\u2010LC\u2010MRM\u2010MS. Genetic analysis included whole exome, Sanger sequencing, and PCR\u2010allele specific assay.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We here present an intriguing patient with an exceptional phenotype: 25\u2010year\u2010old women with a ventricular septal defect and severe idiopathic scoliosis but no facial dysmorphism, who dances as a professional, and has a University degree. Congenital disorder of glycosylation diagnosis started through the identification of antithrombin deficiency without <jats:italic>SERPINC1<\/jats:italic> defect and the detection of hypoglycosylated forms. Increased levels of hypoglycosylated forms of F XI (also with significant deficiency) and transferrin were also detected. Whole exome analysis showed a novel homozygous <jats:italic>ALG12<\/jats:italic> variant c.77T&gt;A, p.(Val26Asp) supporting an ALG12\u2010CDG diagnosis. It also showed three new variants in <jats:italic>KMT2D<\/jats:italic>, and a mild, known <jats:italic>ALG6<\/jats:italic> variant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This novel ALG12\u2010CDG patient (the 13th reported) underlines the heterogeneity of this CDG and broadens its phenotypical spectrum, supports that these disorders are underestimated, and suggests that combination of global hypoglycosylation with specific gene defects might determine the clinical manifestations of CDG patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1304","type":"journal-article","created":{"date-parts":[[2020,6,12]],"date-time":"2020-06-12T12:17:13Z","timestamp":1591964233000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["ALG12\u2010CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7426-4947","authenticated-orcid":false,"given":"Mar\u00eda Eugenia","family":"de la Morena\u2010Barrio","sequence":"first","affiliation":[{"name":"Servicio de Hematolog\u00eda y Oncolog\u00eda M\u00e9dica Hospital Universitario Morales Meseguer Centro Regional de Hemodonaci\u00f3n CIBERER Universidad de Murcia IMIB\u2010Arrixaca Murcia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda","family":"Sabater","sequence":"additional","affiliation":[{"name":"Servicio de Cardiolog\u00eda Laboratorio de Cardiogen\u00e9tica CIBERCV, Hospital Cl\u00ednico Universitario Virgen de la Arrixaca\u2010IMIB Murcia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6696-7762","authenticated-orcid":false,"given":"Bel\u00e9n","family":"de la Morena\u2010Barrio","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda y Oncolog\u00eda M\u00e9dica Hospital Universitario Morales Meseguer Centro Regional de Hemodonaci\u00f3n CIBERER Universidad de Murcia IMIB\u2010Arrixaca Murcia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renee L.","family":"Ruhaak","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry and Laboratory Medicine Leiden University Medical Center Leiden The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonia","family":"Mi\u00f1ano","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda y Oncolog\u00eda M\u00e9dica Hospital Universitario Morales Meseguer Centro Regional de Hemodonaci\u00f3n CIBERER Universidad de Murcia IMIB\u2010Arrixaca Murcia 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Hematolog\u00eda y Oncolog\u00eda M\u00e9dica Hospital Universitario Morales Meseguer Centro Regional de Hemodonaci\u00f3n CIBERER Universidad de Murcia IMIB\u2010Arrixaca Murcia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5818-1754","authenticated-orcid":false,"given":"Juan R.","family":"Gimeno","sequence":"additional","affiliation":[{"name":"Servicio de Cardiolog\u00eda Laboratorio de Cardiogen\u00e9tica CIBERCV, Hospital Cl\u00ednico Universitario Virgen de la Arrixaca\u2010IMIB Murcia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4278-3264","authenticated-orcid":false,"given":"Vicente","family":"Vicente","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda y Oncolog\u00eda M\u00e9dica Hospital Universitario Morales Meseguer Centro Regional de Hemodonaci\u00f3n CIBERER Universidad de Murcia IMIB\u2010Arrixaca Murcia 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