New GATA1 mutation in codon 2 leads to the earliest known premature stop codon in transient myeloproliferative disorder

Blood

Volumn 114, Issue 17, 2009, Pages 3717-3718

  Hoeller, Sylvia ^a   Bihl, Michel P ^a   Tzankov, Alexandar ^a   Kuehne, Thomas ^a   Potthoff, Christian ^a   Bruder, Elisabeth ^a  

^a UNIVERSITY OF BASEL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

LACTATE DEHYDROGENASE; TRANSCRIPTION FACTOR GATA 1;

CARCINOGENESIS; CASE REPORT; CAUSE OF DEATH; CELL COUNT; DISSEMINATED INTRAVASCULAR CLOTTING; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPERCHOLESTEROLEMIA; HYPERKALEMIA; HYPERTRANSLUCENT LUNG; HYPERURICEMIA; HYPOALBUMINEMIA; IMMUNOHISTOCHEMISTRY; LACTATE DEHYDROGENASE BLOOD LEVEL; LETTER; LEUKOCYTOSIS; LIVER DISEASE; LIVER FAILURE; MALE; MEGAKARYOBLAST; MULTIPLE ORGAN FAILURE; MYELOPROLIFERATIVE DISORDER; NEWBORN; NEWBORN DEATH; PLACENTA; POINT MUTATION; POLYMERASE CHAIN REACTION; PREMATURITY; PRIORITY JOURNAL; PROTEIN DEPLETION; STOP CODON; X CHROMOSOME;

EID: 70449502130     PISSN: 00064971     EISSN: 15280020     Source Type: None    
DOI: 10.1182/blood-2009-07-233833     Document Type: Letter

References (10)

1. Stankiewicz MJ, Crispino JD. ETS2 and ERG promote megakaryopoiesis and synergize with alterations in GATA-1 to immortalize hematopoietic progenitor cells. Blood. 2009;113:3337-3347.
2. Malinge S, Izraeli S, Crispino JD. Insights into the manifestations, outcomes, and mechanisms of leukemogenesis in Down syndrome. Blood. 2009;113:2619-2628.
3. Xu G, Nagano M, Kanezaki R, et al. Frequent mutations in the GATA-1 gene in the transient myeloproliferative disorder of Down syndrome. Blood. 2003;102:2960-2968. (Pubitemid 37248871)
4. Rainis L, Bercovich D, Strehl S, et al. Mutations in exon 2 of GATA1 are early events in megakaryocytic alignancies associated with trisomy 21. Blood. 2003;102:981-986. (Pubitemid 36917793)
5. Fujiwara Y, Browne CP, Cunniff K, Goff SC, Orkin SH. Arrested development of embryonic red cell precursors in mouse embryos lacking transcription factor GATA-1. Proc Natl Acad Sci U S A. 1996;93:12355-12358. (Pubitemid 26367147)
6. Shivdasani RA, Fujiwara Y, McDevitt MA, Orkin SH. A lineage-selective knockout establishes the critical role of transcription factor GATA-1 in megakaryocyte growth and platelet development. EMBO J. 1997;16:3965-3973. (Pubitemid 27281012)
7. Hirasawa R, Shimizu R, Takahashi S, et al. Essential and instructive roles of GATA factors in eosinophil development. J Exp Med. 2002;195:1379-1386. (Pubitemid 34602815)
8. Migliaccio AR, Rana RA, Sanchez M, et al. GATA-1 as a regulator of mast cell differentiation revealed by the phenotype of the GATA-1low mouse mutant. J Exp Med. 2003;197:281-296. (Pubitemid 36184235)
9. Ciovacco WA, Raskind WH, Kacena MA. Human phenotypes associated with GATA-1 mutations. Gene. 2008;427:1-6.
10. Mundschau G, Crispino J. GATA1s goes germline. Nat Genet. 2006;38:741-742.