Congenital erythropoietic porphyria linked to GATA1-R216W mutation: Challenges for diagnosis

European Journal of Haematology

Volumn 94, Issue 6, 2015, Pages 491-497

  Di Pierro, Elena ^a   Russo, Roberta ^b,c   Karakas, Zeynep ^d   Brancaleoni, Valentina ^a   Gambale, Antonella ^b,c   Kurt, Ismail ^e   Winter, S Stuart ^f   Granata, Francesca ^a   Czuchlewski, David Rodriguez ^f   Langella, Concetta ^b,c   Iolascon, Achille ^b,c   Cappellini, Maria Domenica ^a,g  

^a FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c CEINGE BIOTECNOLOGIE AVANZATE   (Italy)

^d ISTANBUL UNIVERSITY   (Turkey)

^e GULHANE SCHOOL OF MEDICINE   (Turkey)

^f UNIVERSITY OF NEW MEXICO SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY OF MILAN   (Italy)

Author keywords

Congenital erythropoietic porphyria; Neonatal hemolytic anemia; UROS, GATA1, and SEC23B mutations

Indexed keywords

HEMOGLOBIN F; TRANSCRIPTION FACTOR GATA 1; PORPHYRIN;

ARTICLE; CASE REPORT; CHILD; CONGENITAL DYSERYTHROPOIETIC ANEMIA; CONGENITAL ERYTHROPOIETIC PORPHYRIA; EARLY DIAGNOSIS; GENE LOCUS; GENE MUTATION; HEMOGLOBIN BLOOD LEVEL; HUMAN; INFANT; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; THROMBOCYTOPENIA; X CHROMOSOME LINKED DISORDER; AMINO ACID SUBSTITUTION; BIOPSY; BLOOD; BONE MARROW; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDY; GENETICS; MEAN CORPUSCULAR VOLUME; MUTATION; PATHOLOGY; PEDIGREE; PORPHYRIA, ERYTHROPOIETIC; URINE; X CHROMOSOMAL INHERITANCE;

AMINO ACID SUBSTITUTION; BIOPSY; BONE MARROW; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ERYTHROCYTE INDICES; GATA1 TRANSCRIPTION FACTOR; GENES, X-LINKED; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; PORPHYRIA, ERYTHROPOIETIC; PORPHYRINS;

EID: 84929089554     PISSN: 09024441     EISSN: 16000609     Source Type: Journal    
DOI: 10.1111/ejh.12452     Document Type: Article

References (19)

1. Kappas A, Sassa S, Gelbraith R, Nordmann Y. The porphyrias. In: Scriver C, Beaudet A, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease. New York: McGraw-Hill; 1995:2103-59.
2. Anderson KE, Sassa S, Bishop DF, Desnick RJ. Disorders of heme biosynthesis: x-linked sideroblastic anemia and the porphyrias. In: Scriver CS, Beaudet AL, Sly WS, Valle D, eds. The Molecular and Metabolic Bases of Inherited Disease, 8th edn. New York: McGraw-Hill; 2001:2961-3062.
3. Xu W, Astrin KH, Desnick RJ. Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene. Hum Mutat 1996;7:187-92.
4. Phillips JD, Steensma DP, Pulsipher MA, Spangrude GJ, Kushner JP. Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. Blood 2007;109:2618-21.
5. Ferreira R, Ohneda K, Yamamoto M, Philipsen S. GATA1 function, a paradigm for transcription factors in hematopoiesis. Mol Cell Biol 2005;25:1215-27.
6. Parrella S, Aspesi A, Quarello P, Garelli E, Pavesi E, Carando A, Nardi M, Ellis SR, Ramenghi U, Dianzani I. Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype. Pediatr Blood Cancer 2014;61:1319-21.
7. Ciovacco WA, Raskind WH, Kacena MA. Human phenotypes associated with GATA-1 mutations. Gene 2008;427:1-6.
8. Campbell AE, Wilkinson-White L, Mackay JP, Matthews JM, Blobel GA. Analysis of disease-causing GATA1 mutations in murine gene complementation systems. Blood 2013;121:5218-27.
9. Lim CK, Peters TJ. Urine and faecal porphyrin profiles by reversed-phase high-performance liquid chromatography in the porphyrias. Clin Chim Acta 1984;139:55-63.
10. Blake D, Poulos V, Rossi R. Diagnosis of Porphyria: recommended methods for peripheral laboratories. Clin Biochem Rev 1992;13:S1-24.
11. Di Pierro E, Brancaleoni V, Besana V, Cappellini MD. Multiplex ligation-dependent probe amplification: a novel approach for genetic diagnosis of Porphyria. J Hum Genet 2009;54:479-87.
12. Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992;51:1229-39.
13. Beever C, Lai BP, Baldry SE, Penaherrera MS, Jiang R, Robinson WP, Brown CJ. Methylation of ZNF261 as an assay for determining X chromosome inactivation patterns. Am J Med Genet A 2003;120A:439-41.
14. Tubman VN, Levine JE, Campagna DR, Monahan-Earley R, Dvorak AM, Neufeld EJ, Fleming MD. X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation. Blood 2007;109:3297-9.
15. Balduini CL, Pecci A, Loffredo G, et al. Effects of the R216Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesis. Thromb Haemost 2004;91:129-40.
16. 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;107:753-62.
17. Cutting GR. Modifier genes in Mendelian disorders: the example of cystic fibrosis. Ann N Y Acad Sci 2010;1214:57-69.
18. Lyoumi S, Delaby C, Ged C, Millot S, Karim Z, Haile D, Deybach JC, de Verneuil H, Beumont C, Puy H. Characterization of iron metabolism and anemia in a mouse model of congenital erythropoietic porphyria. Porphyrins and Porphyrias. Meeting Abstract Porphyrins ans Porphyrias, Stockholm, Sweden, 42. 2009. Ref Type: Abstract.
19. Dawe SA, Peters TJ, Du VA, Creamer JD. Congenital erythropoietic porphyria: dilemmas in present day management. Clin Exp Dermatol 2002;27:680-3.