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 61Â 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.1017Â +Â 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 |