Functional characterization of a novel ZIP8 variant causing impaired manganese homeostasis and congenital disorders of glycosylation.
BiometalsJul 22, 2026 (epub)
Hitomi Fujishiro, Naoya Morisada, Nao Mitani et al.
✦ AI-curated · Sources linked
Case in brief
A patient with a congenital disorder of glycosylation (CDG) was found to have a novel mutation (p.F206I) in the ZIP8 gene, resulting in significantly low serum manganese levels and abnormal glycosylation patterns. Functional studies demonstrated that the mutant variant impaired metal ion uptake, with transport levels for manganese, cadmium, and zinc being approximately half of those seen in the wild-type. This case highlights the impact of the mutation on metal homeostasis.
Diagnostic / clinical pearl
Clinicians should consider SLC39A8 mutations in patients presenting with CDG and low manganese levels, as these can significantly affect glycosylation and metal transport.