Table 2.
Reported pedigrees of germline GATA2 deficiency associated with familial AML-MDS
| Authors | Pedigrees | Mutation | Clinical features |
|---|---|---|---|
| Hahn et al. [10] |
4 pedigrees |
p.Thr354Met, p.Thr355del |
Familial AML-MDS |
| Bodor et al. [16] |
1 pedigree |
p.Thr354Met |
Familial AML-MDS |
| Holm et al. [17] |
4 pedigrees |
p.Leu105ProfsX15, p.Pro41Ala, p.Arg396Glu, p.Thr354Met |
Familial AML-MDS, lymphedema, skin cancer |
| Pasquet et al. [18] |
7 pedigrees |
p.Arg396Gln, p.Arg204X, p.Glu224X, p.Arg330X, p.Ala372Thr, p.Met388Val, and a 61 kb deletion of the GATA2 locus |
Chronic neutropenia and evolution to AML-MDS |
| Kazenwadel et al. [19] | 2 pedigrees | p.Thr354Met, p.Met1del290 | Familial MDS, MonoMac |