A new form of familial platelet disorder caused by germline mutations in RUNX1 in a pedigree

Objective To investigate the clinical and biological characteristics of familial platelet disorder(FPD)with germline Runt-related transcription factor(RUNX)1 mutations.Methods Patients diagnosed with myelodysplastic syndrome(MDS)or acute myeloid leukemia(AML)with RUNX1 mutations from February 2016 to December 2021 in Wuhan No.1 Hospital underwent pedigree analysis and were screened for gene mutations(somatic and germline).