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NM_002049.3(GATA1):c.647G>A (p.Arg216Gln) AND Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis

Significance: Pathogenic
ClinVar: RCV000011173

Variant: NM_002049.3(GATA1):c.647G>A (p.Arg216Gln)

Type: Variant
Allele: NM_002049.3(GATA1):c.647G>A (p.Arg216Gln) 25467
Gene:
Type: single nucleotide variant
Location: ChrX: 48792371 - assembly GRCh38
ChrX: 48650778 - assembly GRCh37
References: dbSNP: 104894809
OMIM: 305371.0006
UniProtKB: P15976#VAR_033114

Condition

Disease: Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis

Citations

    Tubman et al. (2007) identified an R216Q substitution in affected members of a family with a mild bleeding disorder, thrombocytopenia, and large agranular platelets characteristic of the so-called 'gray platelet syndrome' (139090). In a letter, Balduini et al. (2007) stated that the family reported by Tubman et al. (2007) had a phenotype consistent with X-linked thrombocytopenia with beta-thalassemia (XLTT) and that the classification as 'X-linked gray platelet syndrome' is a misnomer risking confusion in the literature. They noted that deficiency of platelet alpha-granules can be a feature of XLTT. In response, the original authors (Neufeld et al., 2007) agreed that the disorder in the family may be classified as an example of a unique disorder, i.e., XLTT, but endorsed its classification as 'a unique kind of GPS, inherited in X-linked fashion, with platelets indistinguishable by experts from autosomal GPS (at the light microscope and ultrastructure level).'
PMID:
    Yu et al. (2002) identified an arg216-to-gln (R216Q) mutation in the N finger of GATA1 in a family with X-linked thrombocytopenia with beta-thalassemia (XLTT; 314050). The family had previously been reported by Thompson et al. (1977).
PMID:12200364
    Tubman et al. (2007) identified an R216Q substitution in affected members of a family with a mild bleeding disorder, thrombocytopenia, and large agranular platelets characteristic of the so-called 'gray platelet syndrome' (139090). In a letter, Balduini et al. (2007) stated that the family reported by Tubman et al. (2007) had a phenotype consistent with X-linked thrombocytopenia with beta-thalassemia (XLTT) and that the classification as 'X-linked gray platelet syndrome' is a misnomer risking confusion in the literature. They noted that deficiency of platelet alpha-granules can be a feature of XLTT. In response, the original authors (Neufeld et al., 2007) agreed that the disorder in the family may be classified as an example of a unique disorder, i.e., XLTT, but endorsed its classification as 'a unique kind of GPS, inherited in X-linked fashion, with platelets indistinguishable by experts from autosomal GPS (at the light microscope and ultrastructure level).'
PMID:17209061, PMID:17881640
    Yu et al. (2002) identified an arg216-to-gln (R216Q) mutation in the N finger of GATA1 in a family with X-linked thrombocytopenia with beta-thalassemia (XLTT; 314050). The family had previously been reported by Thompson et al. (1977).
PMID:871527