1. Constitutional PIGA mutations cause a novel subtype of hemochromatosis in patients with neurologic dysfunction
- Author
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Lena Muckenthaler, Oriana Marques, Silvia Colucci, Joachim Kunz, Piotr Fabrowski, Thomas Bast, Sandro Altamura, Britta Höchsmann, Hubert Schrezenmeier, Monika Langlotz, Paulina Richter-Pechanska, Tobias Rausch, Nicole Hofmeister-Mielke, Nikolas Gunkel, Matthias W. Hentze, Andreas E. Kulozik, and Martina U. Muckenthaler
- Subjects
Male ,Adolescent ,Mutation ,Immunology ,Humans ,Membrane Proteins ,Hemochromatosis ,Cell Biology ,Hematology ,Nervous System Diseases ,Child ,Biochemistry - Abstract
Muckenthaler et al describe a novel form of hemochromatosis caused by a constitutional PIGA mutation in 3 children with associated neurologic dysfunction. Hemochromatosis results from decreased hepcidin, which is regulated by HFE, hemojuvelin (HJV), and transferrin receptor 2. HJV is a glycosylphosphatidylinositol-linked protein, so PIGA mutation leads to decreased HJV expression. Interestingly, none of the children had evidence of paroxysmal nocturnal hemoglobinuria. The cause of the novel association with central nervous system manifestations remains to be elucidated.
- Published
- 2022
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