Article
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.
American journal of human genetics - 3 Dec 2015
Park Julien H, Hogrebe Max, Grüneberg Marianne, DuChesne Ingrid, von der Heiden Ava L, Reunert Janine, Schlingmann Karl P, Boycott Kym M, Beaulieu Chandree L, Mhanni Aziz A, Innes A Micheil, Hörtnagel Konstanze, Biskup Saskia, Gleixner Eva M, Kurlemann Gerhard, Fiedler Barbara, Omran Heymut, Rutsch Frank, Wada Yoshinao, Tsiakas Konstantinos, Santer René, Nebert Daniel W, Rust Stephan, Marquardt Thorsten
Abstract excerpt
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...
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