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Pediatr Blood Cancer. 2014 Jul;61(7):1319-21. doi: 10.1002/pbc.24944. Epub 2014 Jan 22.

Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype.

Author information

1
Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.

Abstract

Mutations in the hematopoietic transcription factor GATA-1 alter the proliferation/differentiation of hemopoietic progenitors. Mutations in exon 2 interfere with the synthesis of the full-length isoform of GATA-1 and lead to the production of a shortened isoform, GATA-1s. These mutations have been found in patients with Diamond-Blackfan anemia (DBA), a congenital erythroid aplasia typically caused by mutations in genes encoding ribosomal proteins. We sequenced GATA-1 in 23 patients that were negative for mutations in the most frequently mutated DBA genes. One patient showed a c.2T > C mutation in the initiation codon leading to the loss of the full-length GATA-1 isoform.

KEYWORDS:

Diamond-Blackfan; Gata-1; anemia; erythropoiesis; ribosomal protein

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PMID:
24453067
PMCID:
PMC4684094
DOI:
10.1002/pbc.24944
[Indexed for MEDLINE]
Free PMC Article

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