Congenital erythropoietic porphyria due to a mutation in GATA1: The first trans-acting mutation causative for a human porphyria

Blood

Volumn 109, Issue 6, 2007, Pages 2618-2621

  Phillips, John D ^a   Steensma, David P ^b   Pulsipher, Michael A ^a   Spangrude, Gerald J ^a   Kushner, James P ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLOBIN; BETA GLOBIN; TRANSCRIPTION FACTOR GATA 1; UROPORPHYRINOGEN III SYNTHASE;

ALLELE; ARTICLE; BETA THALASSEMIA; CASE REPORT; CHILD; CODON; CONGENITAL ERYTHROPOIETIC PORPHYRIA; ELECTROPHORESIS; ERYTHROCYTE STRUCTURE; GENE MUTATION; GLOBIN SYNTHESIS; HUMAN; MALE; MUTATIONAL ANALYSIS; PHENOTYPE; PORPHYRIA; PRIORITY JOURNAL; THROMBOCYTE COUNT; X CHROMOSOME LINKAGE;

EID: 33947223723     PISSN: 00064971     EISSN: 00064971     Source Type: Journal    
DOI: 10.1182/blood-2006-06-022848     Document Type: Article

References (25)

1. Bottomly SS. Porphyria. In: Greer JP, Foerster J, Lukens JN, Rodgers GM, Paraskevas F, Glader B, eds. Wintrobe's clinical hematology. Vol 1, 11th ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2004:1057-1087.
2. Chiba M, Sassa S. Analysis of porphyrin carboxylic acids in biological fluids by high-performance liquid chromatography. Anal Biochem. 1982;124:279-285.
3. Phillips JD, Kushner JP. Measurement of uroporphyrinogen decarboxylase activity. In: Maines MD, Costa LG, Reed DJ, Sassa S, Sipes IG, eds. Current protocols in toxicology. New York, NY: John Wiley & Sons; 1999:8.4.1-8.4.13.
4. Sassa S. Delta-aminolevulinic acid dehydratase assay. Enzyme. 1982;28:133-145.
5. Wright DJ, Lim CK. Simultaneous determination of hydroxymethylbilane synthase and uroporphyrinogen III synthase in erythrocytes by high-performance liquid chromatography. Biochem J. 1983;213:85-88.
6. Papadea C, Cate JC. Identification and quantification of hemoglobins A, F, S, and C by automated chromatography. Clin Chem. 1996;42:57-63.
7. Huisman TH, Altay C, Webber B, et al. Quantitation of three types of gamma chain of HbF by high pressure liquid chromatography; application of this method to the HbF of patients with sickle cell anemia or the S-HPFH condition. Blood. 1981;57:75-82.
8. Aizencang G, Solis C, Bishop DF, Warner C, Desnick RJ. Human Uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression. Genomics. 2000;70:223-231.
9. Steensma DP, Higgs DR, Fisher CA, Gibbons RJ. Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations. Blood. 2004;103:2019-2026.
10. Schroeder WA, Shelton JB, Shelton JR, Huynh V, Teplow DB. High performance liquid chromatographic separation of the globin chains of non-human hemoglobins. Hemoglobin. 1985;9:461-482.
11. Anderson KE, Sassa S, Bishop DF, Desnick RJ. Disorders of heme biosynthesis: X-linked sider-oblastic anemia and the porphyrias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. Vol 2, 8th ed. New York, NY: McGraw-Hill; 2001:2991-3062.
12. Gilman JG, Huisman TH. DNA sequence variation associated with elevated fetal G gamma globin production. Blood. 1985;66:783-787.
13. Crispino JD. GATA1 in normal and malignant hematopoiesis. Semin Cell Dev Biol. 2005;16:137-147.
14. Higgs DR. Gene regulation in hematopoiesis: new lessons from thalassemia. Hematology Am Soc Hematol Educ Program. 2004:1-13.
15. Cantor AB. GATA transcription factors in hematologic disease. Int J Hematol. 2005;81:378-384.
16. Nichols KE, Crispino JD, Poncz M, et al. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat Genet. 2000;24:266-270.
17. Mehaffey MG, Newton AL, Gandhi MJ, Crossley M, Drachman JG. X-linked thrombocytopenia caused by a novel mutation of GATA-1. Blood. 2001;98:2681-2688.
18. Freson K, Devriendt K, Matthijs G, et al. Platelet characteristics in patients with X-linked macro-thrombocytopenia because of a novel GATA1 mutation. Blood. 2001;98:85-92.
19. Freson K, Thys C, Wittevrongel C, et al. Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsalpha deficiency in platelets. Hum Mol Genet. 2002;11:2741-2750.
20. Yu C, Niakan KK, Matsushita M, Stamatoyannopoulos G, Orkin SH, Raskind WH. X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction. Blood. 2002;100:2040-2045.
21. Tubman V, Levine J, Campagna D, Fleming M, Neufeld E. X-linked gray platlett syndrome due to a GATA1 Arg216Gln mutation [abstract]. Blood. 2005;106:6a.
22. Thompson AR, Wood WG, Stamatoyannopoulos G. X-linked syndrome of platelet dysfunction, thrombocytopenia, and imbalanced globin chain synthesis with hemolysis. Blood. 1977;50:303-316.
23. Vyas P, McDevitt MA, Cantor AB, Katz SG, Fujiwara Y, Orkin SH. Different sequence requirements for expression in erythroid and megakaryocytic cells within a regulatory element upstream of the GATA-1 gene. Development. 1999;126:2799-2811.
24. Solis C, Aizencang GI, Astrin KH, Bishop DF, Desnick RJ. Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria. J Clin Invest. 2001;107:753-762.
25. Miller BA, Salameh M, Ahmed M, et al. Analysis of hemoglobin F production in Saudi Arabian families with sickle cell anemia. Blood. 1987;70:716-720.