Table 2 Reported GATA2 mutations in familial MDS/AML

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