Caracterización de mutaciones en el gen GATA-1 en pacientes con Síndrome de Down y diagnóstico de mielopoyesis anormal transitoria o leucemia megacarioblástica aguda

Translated title of the contribution: Mutation characterization in the GATA-1 gene in patients with Down's Syndrome diagnosed with transient abnormal myelopoiesis or acute megakaryoblastic leukemia

Adrián P. Mansini, Patricia L. Rubio, Jorge G. Rossi, Marta S. Gallego, Adriana Medina, Pedro A. Zubizarreta, María S. Felice, Cristina N. Alonso

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

Patients with Down's Syndrome have a higher risk of developing acute megakaryoblastic leukemia (AML). Ten per cent of newborn infants with this syndrome have transient abnormal myelopoiesis (TAM), indistinguishable from AML, which generally remits spontaneously. A high incidence of GATA-1 gene mutations was described in both groups of patients. Fourteen bone marrow DNA samples (10 ATM/4 AML) were analyzed by PCR and sequencing; these samples were obtained from 13 patients with Down's Syndrome to describe the rate and mutation characteristics of the GATA-1 gene in the studied population and its consequences at a protein level. Mutations were detected in 10 out of 10 TAM and in 3 out of 4 AML, which at a protein level would result in an early termination codon (n= 5), alterations in the splicing site (n= 6) or sequence change (n= 3). The high rate of GATA-1 gene mutations was confirmed in newborn infants with Down's Syndrome and MAT or AML.

Translated title of the contributionMutation characterization in the GATA-1 gene in patients with Down's Syndrome diagnosed with transient abnormal myelopoiesis or acute megakaryoblastic leukemia
Original languageSpanish
Pages (from-to)532-536
Number of pages5
JournalArchivos Argentinos de Pediatria
Volume111
Issue number6
DOIs
StatePublished - Dec 1 2013
Externally publishedYes

Keywords

  • Down's Syndrome
  • GATA-1
  • Megakaryoblastic leukemia
  • Transient abnormal myelopoiesis

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