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Whatley, Sharon D.; Ducamp, Sarah; Gouya, Laurent; Grandchamp, Bernard; Beaumont, Carole; Badminton, Michael N.; Elder, George H.; Holme, S. Alexander; Anstey, Alexander V.; Parker, Michelle; Corrigall, Anne V.; Meissner, Peter N.; Hift, Richard J.; Marsden, Joanne T.; Ma, Yun; Mieli-Vergani, Giorgina; Deybach, Jean-Charles; Puy, Hervé
American journal of human genetics 83, Številka: 3Journal Article
All reported mutations in ALAS2, which encodes the rate-regulating enzyme of erythroid heme biosynthesis, cause X-linked sideroblastic anemia. We describe eight families with ALAS2 deletions, either c.1706-1709 delAGTG (p.E569GfsX24) or c.1699-1700 delAT (p.M567EfsX2), resulting in frameshifts that lead to replacement or deletion of the 19–20 C-terminal residues of the enzyme. Prokaryotic expression studies show that both mutations markedly increase ALAS2 activity. These gain-of-function mutations cause a previously unrecognized form of porphyria, X-linked dominant protoporphyria, characterized biochemically by a high proportion of zinc-protoporphyrin in erythrocytes, in which a mismatch between protoporphyrin production and the heme requirement of differentiating erythroid cells leads to overproduction of protoporphyrin in amounts sufficient to cause photosensitivity and liver disease.
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