biostudies-literaturePark JHNIEHS NIH HHS894-903https://www.ebi.ac.uk/biostudies/studies/S-EPMC4678430biostudies-literatureUnknown97(6)SLC39A8 is a membrane transporter responsible for manganese uptake into the cell. Via whole-exome sequencing, we studied a child that presented with cranial asymmetry, severe infantile spasms with hypsarrhythmia, and dysproportionate dwarfism. Analysis of transferrin glycosylation revealed severe dysglycosylation corresponding to a type II congenital disorder of glycosylation (CDG) and the blood manganese levels were below the detection limit. The variants c.112G>C (p.Gly38Arg) and c.1019T>A (p.Ile340Asn) were identified in SLC39A8. A second individual with the variants c.97G>A (p.Val33Met) and c.1004G>C (p.Ser335Thr) on the paternal allele and c.610G>T (p.Gly204Cys) on the maternal allele was identified among a group of unresolved case subjects with CDG. These data demonstrate that varianAmerican journal of human geneticsSLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.PMC4678430P30 ES06096R01 ES010416P30 ES006096Mhanni AARutsch FRust SPark JHDuChesne IHortnagel KMarquardt TInnes AMOmran HHogrebe MSchlingmann KPReunert JTsiakas Kvon der Heiden ALGleixner EMFiedler BKurlemann GSanter RGruneberg MWada YBoycott KMBiskup SBeaulieu CLNebert DWfalseSLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.SLC39A8 is a membrane transporter responsible for manganese uptake into the cell. Via whole-exome sequencing, we studied a child that presented with cranial asymmetry, severe infantile spasms with hypsarrhythmia, and dysproportionate dwarfism. Analysis of transferrin glycosylation revealed severe dysglycosylation corresponding to a type II congenital disorder of glycosylation (CDG) and the blood manganese levels were below the detection limit. The variants c.112G>C (p.Gly38Arg) and c.1019T>A (p.Ile340Asn) were identified in SLC39A8. A second individual with the variants c.97G>A (p.Val33Met) and c.1004G>C (p.Ser335Thr) on the paternal allele and c.610G>T (p.Gly204Cys) on the maternal allele was identified among a group of unresolved case subjects with CDG. These data demonstrate that varian2015-01-01T00:00:00Z2015 Dec2026-04-08T04:24:37.002Z2025-05-29T22:30:35.702ZS-EPMC46784302663797910.1016/j.ajhg.2015.11.003