Genomic and epigenomic profiling of GATA2 deficiency reveals aberrant hypermethylation pattern in Bone Marrow and Peripheral Blood

ABSTRACT: The majority (72%) of adolescents with myelodysplastic syndrome and monosomy 7 carry an underlying GATA2 deficiency. Nowadays, chemotherapy and allogenic hematopoietic stem cell transplantation (HSCT) are the only cure, pointing out the urgent need to develop reliable predictive tools. Familial cases carrying the same mutation in the GATA2 gene develop the disease at different age. The trigger of the disease is still unknown. Therefore, it is needed to understand the genetic mechanisms (mutations) and epigenetic mechanism, such as, DNA methylation, a cellular mechanism to control gene expression. Abnormal DNA methylation has been linked to several adverse outcomes, including human diseases. In this study, we deeply characterized 20 Spanish GATA2 deficient patients; study the presence of se

ORGANISM(S): Homo sapiens

SUBMITTER: Maximiliano Distefano 

PROVIDER: E-MTAB-12551 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress