Scientific Publications

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.

Publication TypeJournal Article
AuthorsSankaran, VG, Ghazvinian R., Do R., Thiru P., Vergilio JA, Beggs AH, Sieff CA, Orkin SH, Nathan DG, Lander E. S., and Gazda HT
AbstractDiamond-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.
Year of Publication2012
JournalThe Journal of clinical investigation
Volume122
Issue7
Pages2439-43
Date Published (YYYY/MM/DD)2012/07/02
ISSN Number0021-9738
DOI10.1172/JCI63597
PubMedhttp://www.ncbi.nlm.nih.gov/pubmed/22706301?dopt=Abstract