Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations

Anderson, 2001, Disorders of heme biosynthesis: x-linked sideroblastic anemia and the porphyrias, 2961 Puy, 2010, Porphyrias, Lancet., 375, 924, 10.1016/S0140-6736(09)61925-5 Phillips, 2007, Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria, Blood, 109, 2618, 10.1182/blood-2006-06-022848 Di Pierro, 2015, Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis, Eur. J. Haematol., 94, 491, 10.1111/ejh.12452 Solis, 2001, Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria, J. Clin. Invest., 107, 753, 10.1172/JCI10642 Ramanujam, 2015, Porphyria diagnostics-part 1: a brief overview of the porphyrias, Curr. Protoc. Hum. Genet., 17, 11 Elder, 2013, The incidence of inherited porphyrias in Europe, J. Inherit. Metab. Dis., 36, 849, 10.1007/s10545-012-9544-4 Holme, 2006, Erythropoietic protoporphyria in the U.K.: clinical features and effect on quality of life, Br. J. Dermatol., 155, 574, 10.1111/j.1365-2133.2006.07472.x Di Pierro, 2016, Advances in understanding the pathogenesis of congenital erythropoietic porphyria, Br. J. Haematol., 173, 365, 10.1111/bjh.13978 Kontos, 2003, Congenital erythropoietic porphyria associated with myelodysplasia presenting in a 72-year-old man: report of a case and review of the literature, Br. J. Dermatol., 148, 160, 10.1046/j.1365-2133.2003.05040.x Podlipnik, 2018, Acquired erythropoietic uroporphyria secondary to myelodysplastic syndrome with chromosome 3 alterations: a case report, Br. J. Dermatol., 179, 486 Desnick, 2002, Congenital erythropoietic porphyria: advances in pathogenesis and treatment, Br. J. Haematol., 117, 779, 10.1046/j.1365-2141.2002.03557.x Erwin, 1993 Kauffman, 1991, Bone-marrow transplantation for congenital erythropoietic porphyria, Lancet, 337, 1510, 10.1016/0140-6736(91)93198-I Shaw, 2001, Treatment of congenital erythropoietic porphyria in children by allogeneic stem cell transplantation: a case report and review of the literature, Bone Marrow Transplant., 27, 101, 10.1038/sj.bmt.1702738 Tezcan, 1998, Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation, Blood, 92, 4053, 10.1182/blood.V92.11.4053 Windon, 2018, Erythropoietic protoporphyria in an adult with sequential liver and hematopoietic stem cell transplantation: a case report, Am. J. Transplant., 18, 745, 10.1111/ajt.14581 Zix-Kieffer, 1996, Successful cord blood stem cell transplantation for congenital erythropoietic porphyria (Gunther's disease), Bone Marrow Transplant., 18, 217 Katugampola, 2012, A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases, Br. J. Dermatol., 167, 888, 10.1111/j.1365-2133.2012.11154.x Blouin, 2017, Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition, Hum. Mol. Genet., 26, 1565, 10.1093/hmg/ddx067 Blouin, 2013, Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria, Proc. Natl. Acad. Sci. U. S. A., 110, 18238, 10.1073/pnas.1314177110 Robert-Richard, 2008, Effective gene therapy of mice with congenital erythropoietic porphyria is facilitated by a survival advantage of corrected erythroid cells, Am. J. Hum. Genet., 82, 113, 10.1016/j.ajhg.2007.09.007 Balwani, 2013 Balwani, 2012, The porphyrias: advances in diagnosis and treatment, Blood., 120, 4496, 10.1182/blood-2012-05-423186 Gou, 2015, Pitfalls in erythrocyte protoporphyrin measurement for diagnosis and monitoring of protoporphyrias, Clin. Chem., 61, 1453, 10.1373/clinchem.2015.245456 Lecha, 2009, Erythropoietic protoporphyria, Orphanet. J. Rare Dis., 4, 19, 10.1186/1750-1172-4-19 Lane, 2016, Advances in the management of erythropoietic protoporphyria - role of afamelanotide, Appl. Clin. Genet., 9, 179, 10.2147/TACG.S122030 Langendonk, 2015, Afamelanotide for erythropoietic protoporphyria, N. Engl. J. Med., 373, 48, 10.1056/NEJMoa1411481 Balwani, 2017, Clinical, biochemical, and genetic characterization of north american patients with erythropoietic protoporphyria and x-linked protoporphyria, JAMA Dermatol., 153, 789, 10.1001/jamadermatol.2017.1557 McGuire, 2005, Liver transplantation for erythropoietic protoporphyria liver disease, Liver Transpl., 11, 1590, 10.1002/lt.20620 Singal, 2014, Liver transplantation in the management of porphyria, Hepatology, 60, 1082, 10.1002/hep.27086 Butler, 2015, Bone marrow transplant for X-linked protoporphyria with severe hepatic fibrosis, Pediatr. Transplant., 19, E106, 10.1111/petr.12472 Rand, 2006, Sequential liver and bone marrow transplantation for treatment of erythropoietic protoporphyria, Pediatrics, 118, e1896, 10.1542/peds.2006-0833 Stenson, 2003, Human gene mutation database (HGMD): 2003 update, Hum. Mutat., 21, 577, 10.1002/humu.10212 Shady, 2002, Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene, Br. J. Haematol., 117, 980, 10.1046/j.1365-2141.2002.03558.x Bishop, 2013, Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria, Mol. Med., 19, 18, 10.2119/molmed.2013.00003 Balwani, 2013, Mol. Med., 19, 26, 10.2119/molmed.2012.00340 Whatley, 2007, Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria, J. Invest. Dermatol., 127, 2790, 10.1038/sj.jid.5700924 Ged, 2009, Congenital erythropoietic porphyria: mutation update and correlations between genotype and phenotype, Cell. Mol. Biol. (Noisy-le-grand), 55, 53