Journal
JOURNAL OF CLINICAL INVESTIGATION
Volume 122, Issue 7, Pages 2439-2443Publisher
AMER SOC CLINICAL INVESTIGATION INC
DOI: 10.1172/JCI63597
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Funding
- NIH grant [R01 HL107558, T32 HL007574-30, U54 HG003067-09]
- Manton Center for Orphan Disease Research
- Diamond-Blackfan Anemia Foundation
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Diamond-Blackfan anemia (DBA) is a hypoplastic anemia characterized by impaired production of red blood cells, with approximately half of all cases attributed to ribosomal protein gene mutations. We performed exome sequencing on two siblings who had no known pathogenic mutations for DBA and identified a mutation in the gene encoding the hematopoietic transcription factor GATA1. This mutation, which occurred at a splice site of the GATA1 gene, impaired production of the full-length form of the protein. We further identified an additional patient carrying a distinct mutation at the same splice site of the GATA1 gene. These findings provide insight into the pathogenesis of DBA, showing that the reduction in erythropoiesis associated with the disease can arise from causes other than defects in ribosomal protein genes. These results also illustrate the multifactorial role of GATA1 in human hematopoiesis.
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