From: Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature
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 |