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Table 1 Reported GATA1 mutations in Diamond–Blackfan anemia, X-linked macrothrombocytopenia and related entities

From: GATA family transcriptional factors: emerging suspects in hematologic disorders

Authors Mutations Impaired function Clinical features
Sankaran et al. [46] c.220G>C (p.Val74Leu) exon 2 splice site of the GATA1 gene Loss of the full-length form GATA1 Diamond–Blackfan anemia
Klar et al. [47] c.220G>C exon 2 of the GATA1 gene Loss of the full-length form GATA1 Diamond–Blackfan anemia
Holanda et al. [48] c.332G>C exon 2 of the GATA1 gene Synthesis of only the short isoform Anemia and trilineage dysplasia
Parrella et al. [69] c.2T > C in the initiation codon Loss of the full-length GATA-1 isoform Diamond–Blackfan anemia
Nichols et al. [35] p.Val205Met exon 4 of N-terminal zinc finger domain Impairs the interaction between GATA1 and FOG1 Hereditary dyserythropoietic anemia and thrombocytopenia
Freson et al. [36] c.653A>G (p.Asp218Gly) in N-terminal zinc finger domain Impairs the interaction between GATA1 and FOG1 Hereditary macrothrombocytopenia and mild dyserythropoiesis
Mehaffey et al. [37] c.622G>T, 623G>C (p.Gly208Ser) in N-terminal zinc finger domain Impairs the interaction between GATA1 and FOG1 Macrothrombocytopenia and severe bleeding
Yu et al. [38] and Tubman et al. [41] p.Arg216Gln in N-terminal zinc finger domain Affect DNA binding, diminishing the ability of the transcription factor to bind GATA binding sites X-linked thrombocytopenia, absence or paucity of α-granules, thalassemia
Phillips et al. [40] p.Arg216Trp in N-terminal zinc finger domain Alters affinity of GATA1 for either FOG-1, or with GATA recognition sites Congenital erythropoietic porphyria, thrombocytopenia and thalassemia