{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T04:38:12Z","timestamp":1790483892740,"version":"4.1.0"},"reference-count":34,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2020,7,1]],"date-time":"2020-07-01T00:00:00Z","timestamp":1593561600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,7,1]],"date-time":"2020-07-01T00:00:00Z","timestamp":1593561600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,5,20]],"date-time":"2021-05-20T00:00:00Z","timestamp":1621468800000},"content-version":"vor","delay-in-days":323,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100016650","name":"Rare Diseases Clinical Research Network","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100016650","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2020,7]]},"DOI":"10.1016\/j.ejmg.2020.103941","type":"journal-article","created":{"date-parts":[[2020,5,11]],"date-time":"2020-05-11T10:10:02Z","timestamp":1589191802000},"page":"103941","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"title":["Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T&gt;C (p.Tyr131His) variant and further expanding the BBSOAS phenotype"],"prefix":"10.1016","volume":"63","author":[{"given":"Rodrigo Tzovenos","family":"Starosta","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Tarnowski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo Pinto e","family":"Vairo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimiyo","family":"Raymond","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graeme","family":"Preston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Morava","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.ejmg.2020.103941_bib1","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1002\/ajmg.a.35650","article-title":"NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay","volume":"161A","author":"Al-Kateb","year":"2013","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2020.103941_bib2","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/1750-1172-5-7","article-title":"A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report","volume":"5","author":"Al-Owain","year":"2010","journal-title":"Orphanet J. Rare Dis."},{"issue":"5","key":"10.1016\/j.ejmg.2020.103941_bib3","doi-asserted-by":"crossref","first-page":"998","DOI":"10.1002\/jimd.12110","article-title":"A novel phosphoglucomutase-deficient mouse model reveals aberrant glycosylation and early embryonic lethality","volume":"42","author":"Balakrishnan","year":"2019","journal-title":"J. Inherit. Metab. Dis."},{"issue":"2","key":"10.1016\/j.ejmg.2020.103941_bib4","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1016\/j.ajhg.2014.01.002","article-title":"NR2F1 mutations cause optic atrophy with intellectual disability","volume":"94","author":"Bosch","year":"2014","journal-title":"Am. J. Hum. Genet."},{"issue":"24","key":"10.1016\/j.ejmg.2020.103941_bib5","doi-asserted-by":"crossref","first-page":"477","DOI":"10.21037\/atm.2018.10.45","article-title":"Congenital disorders of glycosylation","volume":"6","author":"Chang","year":"2018","journal-title":"Ann. Transl. Med."},{"issue":"11","key":"10.1016\/j.ejmg.2020.103941_bib6","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1038\/gim.2016.18","article-title":"The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations","volume":"18","author":"Chen","year":"2016","journal-title":"Genet. Med."},{"issue":"1","key":"10.1016\/j.ejmg.2020.103941_bib7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ymgme.2018.11.003","article-title":"The challenge of CDG diagnosis","volume":"126","author":"Francisco","year":"2019","journal-title":"Mol. Genet. Metabol."},{"issue":"5","key":"10.1016\/j.ejmg.2020.103941_bib8","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1002\/mgg3.86","article-title":"Disease variants in genomes of 44 centenarians","volume":"2","author":"Freudenberg-Hua","year":"2014","journal-title":"Mol Genet Genomic Med"},{"issue":"1","key":"10.1016\/j.ejmg.2020.103941_bib9","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1089\/gtmb.2011.0093","article-title":"Frequency determination of \u03b1-1,3 glucosyltransferase p.Y131H and p.F304S polymorphisms in the Croatian population revealed five novel single nucleotide polymorphisms in the hALG6 gene","volume":"16","author":"Goreta","year":"2012","journal-title":"Genet. Test. Mol. Biomarkers"},{"key":"10.1016\/j.ejmg.2020.103941_bib10","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1186\/s13059-016-0869-4","article-title":"The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes","volume":"17","author":"Gussow","year":"2016","journal-title":"Genome Biol."},{"issue":"12","key":"10.1016\/j.ejmg.2020.103941_bib11","doi-asserted-by":"crossref","first-page":"1628","DOI":"10.1002\/humu.21126","article-title":"Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides","volume":"30","author":"Haeuptle","year":"2009","journal-title":"Hum. Mutat."},{"issue":"2","key":"10.1016\/j.ejmg.2020.103941_bib12","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1055\/s-2000-7486","article-title":"Congenital disorder of glycosylation-Ic: case report and genetic defect","volume":"31","author":"Hanefeld","year":"2000","journal-title":"Neuropediatrics"},{"issue":"3","key":"10.1016\/j.ejmg.2020.103941_bib13","doi-asserted-by":"crossref","first-page":"e58219","DOI":"10.1371\/journal.pone.0058219","article-title":"CoupTFI interacts with retinoic acid signaling during cortical development","volume":"8","author":"Harrison-Uy","year":"2013","journal-title":"PloS One"},{"key":"10.1016\/j.ejmg.2020.103941_bib14","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1016\/j.seizure.2017.06.018","article-title":"Long-term outcome of a 26-year-old woman with West syndrome and an nuclear receptor subfamily 2 group F member 1 gene (NR2F1) mutation","volume":"50","author":"Hino-Fukuyo","year":"2017","journal-title":"Seizure"},{"issue":"12","key":"10.1016\/j.ejmg.2020.103941_bib15","doi-asserted-by":"crossref","first-page":"6982","DOI":"10.1073\/pnas.96.12.6982","article-title":"A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic","volume":"96","author":"Imbach","year":"1999","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"4","key":"10.1016\/j.ejmg.2020.103941_bib16","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1016\/j.ajhg.2016.08.016","article-title":"REVEL: an ensemble method for predicting the pathogenicity of rare missense variants","volume":"99","author":"Ioannidis","year":"2016","journal-title":"Am. J. Hum. Genet."},{"issue":"12","key":"10.1016\/j.ejmg.2020.103941_bib17","doi-asserted-by":"crossref","first-page":"1581","DOI":"10.1038\/ng.3703","article-title":"M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity","volume":"48","author":"Jagadeesh","year":"2016","journal-title":"Nat. Genet."},{"issue":"1","key":"10.1016\/j.ejmg.2020.103941_bib18","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1136\/bjo.2005.080648","article-title":"Glycosylation type Ic disorder: idiopathic intracranial hypertension and retinal degeneration","volume":"90","author":"Kahook","year":"2006","journal-title":"Br. J. Ophthalmol."},{"issue":"6","key":"10.1016\/j.ejmg.2020.103941_bib19","article-title":"Novel","volume":"3","author":"Kaiwar","year":"2017","journal-title":"Cold Spring Harb Mol Case Stud"},{"key":"10.1016\/j.ejmg.2020.103941_bib20","series-title":"Variation across 141,456 Human Exomes and Genomes Reveals the Spectrum of Loss-Of-Function Intolerance across Human Protein-Coding Genes","author":"Karczewski","year":"2019"},{"issue":"Database issue","key":"10.1016\/j.ejmg.2020.103941_bib21","doi-asserted-by":"crossref","first-page":"D980","DOI":"10.1093\/nar\/gkt1113","article-title":"ClinVar: public archive of relationships among sequence variation and human phenotype","volume":"42","author":"Landrum","year":"2014","journal-title":"Nucleic Acids Res."},{"issue":"4","key":"10.1016\/j.ejmg.2020.103941_bib22","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1007\/s10545-011-9370-0","article-title":"How to find and diagnose a CDG due to defective N-glycosylation","volume":"34","author":"Lefeber","year":"2011","journal-title":"J. Inherit. Metab. Dis."},{"issue":"1","key":"10.1016\/j.ejmg.2020.103941_bib23","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.ymgme.2011.01.016","article-title":"Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic)","volume":"103","author":"Miller","year":"2011","journal-title":"Mol. Genet. Metabol."},{"issue":"6","key":"10.1016\/j.ejmg.2020.103941_bib24","doi-asserted-by":"crossref","first-page":"1417","DOI":"10.1038\/s41436-018-0353-5","article-title":"Trajectory of exonic variant discovery in a large clinical population: implications for variant curation","volume":"21","author":"Mirshahi","year":"2019","journal-title":"Genet. Med."},{"issue":"5","key":"10.1016\/j.ejmg.2020.103941_bib25","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1007\/s10545-016-9945-x","article-title":"ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies","volume":"39","author":"Morava","year":"2016","journal-title":"J. Inherit. Metab. Dis."},{"issue":"6","key":"10.1016\/j.ejmg.2020.103941_bib26","doi-asserted-by":"crossref","first-page":"1068","DOI":"10.1002\/mgg3.484","article-title":"Clinical whole-exome sequencing results impact medical management","volume":"6","author":"Niguidula","year":"2018","journal-title":"Mol Genet Genomic Med"},{"issue":"10","key":"10.1016\/j.ejmg.2020.103941_bib27","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1038\/gim.2017.37","article-title":"Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria","volume":"19","author":"Nykamp","year":"2017","journal-title":"Genet. Med."},{"issue":"4","key":"10.1016\/j.ejmg.2020.103941_bib28","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1080\/13816810.2019.1650074","article-title":"Targeted panel sequencing identifies a novel","volume":"40","author":"Park","year":"2019","journal-title":"Ophthalmic Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2020.103941_bib29","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1002\/jcp.24228","article-title":"Role of COUP-TFI during retinoic acid-induced differentiation of P19 cells to endodermal cells","volume":"228","author":"Pickens","year":"2013","journal-title":"J. Cell. Physiol."},{"issue":"5","key":"10.1016\/j.ejmg.2020.103941_bib30","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1016\/j.ajhg.2019.03.003","article-title":"The metabolic map into the pathomechanism and treatment of PGM1-CDG","volume":"104","author":"Radenkovic","year":"2019","journal-title":"Am. J. Hum. Genet."},{"issue":"5","key":"10.1016\/j.ejmg.2020.103941_bib31","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and Genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"issue":"9","key":"10.1016\/j.ejmg.2020.103941_bib32","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1001\/jamapediatrics.2017.1755","article-title":"Diagnostic impact and cost-effectiveness of whole-exome sequencing for ambulant children with suspected monogenic conditions","volume":"171","author":"Tan","year":"2017","journal-title":"JAMA Pediatr"},{"issue":"6","key":"10.1016\/j.ejmg.2020.103941_bib33","doi-asserted-by":"crossref","first-page":"1917","DOI":"10.1016\/S0002-9440(10)64830-4","article-title":"Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation","volume":"157","author":"Westphal","year":"2000","journal-title":"Am. J. Pathol."},{"issue":"5","key":"10.1016\/j.ejmg.2020.103941_bib34","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1002\/humu.9195","article-title":"Identification of a frequent variant in ALG6, the cause of congenital disorder of glycosylation-ic","volume":"22","author":"Westphal","year":"2003","journal-title":"Hum. Mutat."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721220301609?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721220301609?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T06:25:05Z","timestamp":1778826305000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721220301609"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7]]},"references-count":34,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2020,7]]}},"alternative-id":["S1769721220301609"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2020.103941","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2020,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2020.103941","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier Masson SAS.","name":"copyright","label":"Copyright"}],"article-number":"103941"}}