Analysis of GATA1 mutations and leukemogenesis in newborns with Down syndrome
- Resource Type
- Authors
- R. Camargo; Juliana F. Mazzeu; I. Q. Magalhães; Iris Ferrari; Mara Santos Córdoba; L.B. Queiroz; B.D. Lima; C. Martins-de-Sa
- Source
- Genetics and Molecular Research. 12:4630-4638
- Subject
- Male
Down syndrome
DNA Mutational Analysis
Spontaneous remission
Exon
Genetics
medicine
Humans
GATA1 Transcription Factor
Genetic Predisposition to Disease
Frameshift Mutation
Molecular Biology
Genetic Association Studies
Myeloproliferative Disorders
Base Sequence
business.industry
Incidence (epidemiology)
Infant, Newborn
Infant
Myeloid leukemia
GATA1
General Medicine
medicine.disease
Minimal residual disease
stomatognathic diseases
Treatment Outcome
Leukemia, Myeloid
Cohort
Immunology
Female
Down Syndrome
business
human activities
- Language
- ISSN
- 1676-5680
It has been reported that patients with Down syndrome (DS) frequently develop transient myeloproliferative disorder (TMD) and less commonly myeloid leukemia in DS (ML-DS). We examined the pathogenetic relationship of these conditions with somatic mutations of the GATA1 gene in children with both TMD and ML-DS. To determine the incidence of GATA1 mutations in a cohort of DS patients and the applicability of these mutations as a clonal marker to detect minimal residual disease, we screened 198 samples of 169 patients with DS for mutations in GATA1 exon 2 by direct sequencing. Novel mutations were detected in four of the 169 DS patients (2 with TMD and 2 with ML-DS). We examined spontaneous remission and response to therapy in TMD and ML-DS patients and concluded that these mutations can be used as stable markers in PCR analysis to monitor these events.