{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Park JH"],"funding":["NIEHS NIH HHS"],"pagination":["894-903"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4678430"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["97(6)"],"pubmed_abstract":["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 varian"],"journal":["American journal of human genetics"],"pubmed_title":["SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation."],"pmcid":["PMC4678430"],"funding_grant_id":["P30 ES06096","R01 ES010416","P30 ES006096"],"pubmed_authors":["Mhanni AA","Rutsch F","Rust S","Park JH","DuChesne I","Hortnagel K","Marquardt T","Innes AM","Omran H","Hogrebe M","Schlingmann KP","Reunert J","Tsiakas K","von der Heiden AL","Gleixner EM","Fiedler B","Kurlemann G","Santer R","Gruneberg M","Wada Y","Boycott KM","Biskup S","Beaulieu CL","Nebert DW"],"additional_accession":[]},"is_claimable":false,"name":"SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.","description":"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 varian","dates":{"release":"2015-01-01T00:00:00Z","publication":"2015 Dec","modification":"2026-04-08T04:24:37.002Z","creation":"2025-05-29T22:30:35.702Z"},"accession":"S-EPMC4678430","cross_references":{"pubmed":["26637979"],"doi":["10.1016/j.ajhg.2015.11.003"]}}