ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes
Alsharhan H, He M, Edmondson AC, Daniel EJP, Chen J, Donald T, Bakhtiari S, Amor DJ, Jones EA, Vassallo G, Vincent M, Cogné B, Deb W, Werners AH, Jin SC, Bilguvar K, Christodoulou J, Webster RI, Yearwood KR, Ng BG, Freeze HH, Kruer MC, Li D, Raymond KM, Bhoj EJ, Sobering AK. ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. Journal Of Inherited Metabolic Disease 2021, 44: 1001-1012. PMID: 33734437, PMCID: PMC8720508, DOI: 10.1002/jimd.12378.Peer-Reviewed Original ResearchMeSH KeywordsCongenital Disorders of GlycosylationFemaleGenetic VariationGlycosylationHumansIntellectual DisabilityMaleN-AcetylglucosaminyltransferasesPhenotypeTransferrinConceptsTransferrin glycosylationProtein glycosylationPathogenic variantsN-glycansGlycosylation analysisGlycosylationVariable clinical phenotypeALG13Novel variantsPlasma glycansPhenotypeCongenital disorderIonization quadrupole timeVariantsUnderlying mechanismClinical phenotypeIntellectual disabilityNovo c.Unreported subjectsInfantile spasmsEpileptic encephalopathyClinical dataGlycansMale subjectsNeurodevelopmental course