SLC39A8 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.

Source: The American Journal of Human Genetics - December 3, 2015 Category: Genetics & Stem Cells Authors: Julien H. Park, Max Hogrebe, Marianne Grüneberg, Ingrid DuChesne, Ava L. von der Heiden, Janine Reunert, Karl P. Schlingmann, Kym M. Boycott, Chandree L. Beaulieu, Aziz A. Mhanni, A. Micheil Innes, Konstanze Hörtnagel, Saskia Biskup, Eva M. Gl Tags: Report Source Type: research