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Table 2 Reported pedigrees of germline GATA2 deficiency associated with familial AML-MDS

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