Skip to main content

Table 2 Reported GATA2 mutations in familial MDS/AML

From: GATA family transcriptional factors: emerging suspects in hematologic disorders

Authors Mutations Locations Clinical features
Hahn et al. [56] c.1061C>T (p.Thr354Met), c.1063_1065delACA (p.Thr355del) C-terminal zinc finger domain Familial MDS/AML
Bodor et al. [70] c.1061C>T (p.Thr354Met) C-terminal zinc finger domain Familial MDS/AML
Holm et al. [58] c.313_314insCC (p.Leu105ProfsX15), c.121C>G (p.Pro41Ala), c.1187G>A (p.Arg396Gln), c.1061C>T (p.Thr354Met) Various regions Familial MDS/AML, lymphedema, skin cancer
Pasquet et al. [71] c.1187G>A (p.Arg396Gln), c.610C>T (p.Arg204X), c.670G>T (p.Glu224X), c.988C>T (p.Arg330X), c.1114G>A (p.Ala372Thr), c.1162A>G (p.Met388Val), and a 61 kb deletion of the GATA2 locus Various regions Chronic neutropenia and evolution to MDS/AML
Kazenwadel et al. [72] c.1061C>T (p.Thr354Met), p.Leu332Thrfs*53, deletion encompassing GATA2 gene, p.Met1del290, c.1017 + 2T>G (p.?) Various regions Familial MDS, MonoMac
Gao et al. [73] p.Thr358Asn, p.Leu359Val C-terminal zinc finger domain MDS/AML, immunodeficiency
Fujiwara et al. [74] p. Arg330X N-terminal zinc finger domain MDS/AML, immunodeficiency