Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

Sankaran, Vijay G.; Ghazvinian, Roxanne; Do, Ron; Thiru, Prathapan; Vergilio, Jo-Anne; Beggs, Alan H.; Sieff, Colin A.; Orkin, Stuart H.; Nathan, David G.; Lander, Eric S.; Gazda, Hanna T.

doi:10.1172/jci63597

Cited by 342Blood disorders and treatmentsGenomics and Rare DiseasesHemoglobinopathies and Related Disorders

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

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Sankaran, Vijay G., Ghazvinian, Roxanne, Do, Ron, Thiru, Prathapan, Vergilio, Jo-Anne, Beggs, Alan H., Sieff, Colin A., Orkin, Stuart H. +3 more·2012·Journal of Clinical Investigation

DOI 10.1172/jci63597PMC PMC3386831

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Abstract

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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Through exome sequencing, rare individuals with Diamond-Blackfan anemia containing loss-of-function mutations in the hematopoietic master transcription factor GATA1 were identified.
“Through exome sequencing, rare individuals with DBA containing loss-of-function mutations in the hematopoietic master TF GATA1 were identified (Sankaran et al., 2012).”
From Unraveling Hematopoiesis through the Lens of Genomics (2020) · cites this paper as Sankaran et al., 2012

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Authors: Sankaran, V. G., Ghazvinian, R., Do, R., Thiru, P., Vergilio, J.-A., Beggs, A. H., Sieff, C. A., Orkin, S. H., Nathan, D. G., Lander, E. S., & Gazda, H. T.
Affiliations: Broad Institute (US)
Manton Center for Orphan Disease Research (US)
Whitehead Institute for Biomedical Research (US)
Harvard University (US)
Boston Children's Hospital (US)
ORCID: Sankaran, Vijay G.
Do, Ron
Thiru, Prathapan
Beggs, Alan H.
Sieff, Colin A.
Orkin, Stuart H.
Lander, Eric S.
Gazda, Hanna T.
Venue: Journal of Clinical Investigation
Publisher: American Society for Clinical Investigation
Published: 2012-07-02
Volume: 122
Issue: 7
Pages: 2439-2443
ISSN: 0021-9738 (ISSN-L)
DOI: 10.1172/jci63597
PMC: PMC3386831
OpenAlex: W2073724558
Cited by: 342
References: 23
Citations by year: 2026: 13 · 2025: 8 · 2024: 20 · 2023: 17 · 2022: 25 · 2021: 25 · 2020: 25 · 2019: 24 · 2018: 27 · 2017: 42 · 2016: 24 · 2015: 29 · 2014: 35 · 2013: 20 · 2012: 7
FWCI: 17.54
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Locations: Journal of Clinical Investigation (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: National Institutes of Health (HG003067)
Manton Center for Orphan Disease Research, Boston Children's Hospital
National Heart, Lung, and Blood Institute (R01HL107558, T32HL007574)
National Human Genome Research Institute (U54HG003067)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Blood disorders and treatments
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Health Sciences › Medicine › Genetics › Hemoglobinopathies and Related Disorders
Keywords: Diamond-Blackfan anemia, GATA-1, splice site mutation, hypoplastic anemia, erythropoiesis, hematopoietic transcription factors, siblings, pathogenesis, hematopoiesis
MeSH terms: Base Sequence, DNA Mutational Analysis, Hematopoiesis, Humans, Male, Case-Control Studies, Sequence Deletion, Anemia, Diamond-Blackfan, GATA1 Transcription Factor, Young Adult, Genetic Association Studies, Exome, Real-Time Polymerase Chain Reaction

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Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

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