X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation - PubMed (original) (raw)
. 2007 Apr 15;109(8):3297-9.
doi: 10.1182/blood-2006-02-004101. Epub 2007 Jan 5.
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- PMID: 17209061
- DOI: 10.1182/blood-2006-02-004101
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X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation
Venée N Tubman et al. Blood. 2007.
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Abstract
We identified a family with gray platelet syndrome (GPS) segregating as a sex-linked trait. Affected males had a mild bleeding disorder, thrombocytopenia, and large agranular platelets characteristic of GPS, while obligate carrier females were asymptomatic but had dimorphic platelets on peripheral smear. Associated findings included mild erythrocyte abnormalities in affected males. Linkage analysis revealed a 63 cM region on the X chromosome between markers G10578 and DXS6797, which segregated with the platelet phenotype and included the GATA1 gene. Sequencing of GATA1 revealed a G-to-A mutation at position 759 corresponding to amino acid change Arg216Gln. This mutation was previously described as a cause of X-linked thrombocytopenia with thalassemia (XLTT) but not of gray platelet syndrome. Our findings suggest that XLTT is within a spectrum of disorders constituting the gray platelet syndrome, and we propose that GATA1 is an upstream regulator of the genes required for platelet alpha-granule biogenesis.
Comment in
- Why the disorder induced by GATA1 Arg216Gln mutation should be called "X-linked thrombocytopenia with thalassemia" rather than "X-linked gray platelet syndrome".
Balduini CL, De Candia E, Savoia A. Balduini CL, et al. Blood. 2007 Oct 1;110(7):2770-1; author reply 2771. doi: 10.1182/blood-2007-03-080978. Blood. 2007. PMID: 17881640 Free PMC article. No abstract available.
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