GATA1 mutations in a cohort of Malaysian children with Down syndrome-associated myeloid disorder.

ABSTRACT:

Introduction

Children with Down syndrome (DS) are at increased risk of developing distinctive clonal myeloid disorders, including transient abnormal myelopoiesis (TAM) and myeloid leukaemia of DS (ML-DS). TAM connotes a spontaneously resolving congenital myeloproliferative state observed in 10%-20% of DS newborns. Following varying intervals of apparent remission, a proportion of children with TAM progress to develop ML-DS in early childhood. Therefore, TAM and ML-DS represent a biological continuum. Both disorders are characterised by recurring truncating somatic mutations of the GATA1 gene, which are considered key pathogenetic events.

Methods

We herein report, to our knowledge, the first observation on the frequency and nature of GATA1 gene mutations in a cohort of Malays

SUBMITTER: Lum SH 

PROVIDER: S-EPMC4971451 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature