Loss of GATA‐1 full length as a cause of Diamond–Blackfan anemia phenotype. Issue 7 (22nd January 2014)

• Record Type: Journal Article
• Authors: Parrella, Sara; Aspesi, Anna; Quarello, Paola; Garelli, Emanuela; Pavesi, Elisa; Carando, Adriana; Nardi, Margherita; Ellis, Steven R.; Ramenghi, Ugo; Dianzani, Irma
• Is Part Of: Pediatric blood & cancer. Volume 61:Issue 7(2014:Jul.)
• Page Start: 1319
• Page End: 1321
• Publication Date: 2014-01-22
• Subjects: Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Cancer in children -- Periodicals; 618.92
• DOI: 10.1002/pbc.24944
• Languages: English
• ISSNs: 1545-5009

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="pbc24944-sec-0001" sec-type="section"> <p>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 <italic>GATA‐1</italic> in 23 patients that were negative for mutations in the most frequently mutated DBA genes. One patient showed a c.2T &gt; C mutation in the initiation codon leading to the loss of the full‐length GATA‐1 isoform. Pediatr Blood Cancer 2014;61:1319–1321. © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>