Heterozygous nonsense <i>FLI1</i> p.Met100∗ variant results in thrombocytopenia and increased erythroid gene expression.

ABSTRACT:

Background

Megakaryocytes and platelets arise from hematopoietic stem and progenitor cells through a tightly regulated process involving various transcription factors, including erythroblast transformation-specific family member FLI1. Pathogenic variants in FLI1, particularly those affecting the erythroblast transformation-specific DNA-binding domain, have been implicated in inherited platelet disorder and are associated with abnormal giant α granules, as seen in Paris-Trousseau Syndrome. However, the precise pathophysiological mechanisms remain unclear.

Objectives

In this study, we describe a patient with a de novo heterozygous nonsense mutation, FLI1 p.Met100∗ (c.297del) and investigate its effects on megakaryopoiesis. We hypothesized that this variant genera

SUBMITTER: Zhang H 

PROVIDER: S-EPMC12767185 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature