Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition.

ABSTRACT:

Abstract

The genomics era has facilitated the discovery of new genes that predispose individuals to bone marrow failure (BMF) and hematological malignancy (HM). We report the discovery of ETS-related gene (ERG), a novel, autosomal dominant BMF/HM predisposition gene. ERG is a highly constrained transcription factor that is critical for definitive hematopoiesis, stem cell function, and platelet maintenance. ERG colocalizes with other transcription factors, including RUNX family transcription factor 1 (RUNX1) and GATA binding protein 2 (GATA2), on promoters or enhancers of genes that orchestrate hematopoiesis. We identified a rare heterozygous ERG missense variant in 3 individuals with thrombocytopenia from 1 family and 14 additional ERG variants in unrelated individuals with BMF/HM,

SUBMITTER: Zerella JR 

PROVIDER: S-EPMC11530364 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature