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Semin Hematol. 2011 Apr;48(2):124-35. doi: 10.1053/j.seminhematol.2011.02.003.

Untangling the phenotypic heterogeneity of Diamond Blackfan anemia.

Author information

  • 1Kimmel Comprehensive Cancer Center, Department of Oncology, Division of Pediatric Oncology, Johns Hopkins University, Baltimore, MD 21231, USA. jfarrar4@jhmi.edu

Abstract

Diamond Blackfan anemia (DBA) is a lineage-selective inherited bone marrow failure syndrome characterized primarily by anemia and physical malformations. Recent advances in identifying the genetic abnormalities underlying DBA have demonstrated involvement of genes encoding both large (RPL) and small (RPS) ribosomal subunit proteins, including mutations of RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, and RPS26 in 50% to 60% of affected patients. Despite significant progress, identification of gene abnormalities in the remaining patients remains an important question since present data suggest that mutations in other members of the ribosomal protein gene complement do not explain those cases without an identified genetic lesion in these genes. Genetic studies have also raised new questions with the recognition of substantial variability in the manifestations of DBA, ranging from ribosomal protein mutations in otherwise asymptomatic individuals to those with classic severe red blood cell aplasia with characteristic malformations, at times within the same kindred. In this review, we summarize the genetic basis of DBA and discuss mechanisms by which the phenotype of DBA might be modified.

Copyright © 2011 Elsevier Inc. All rights reserved.

PMID:
21435509
[PubMed - indexed for MEDLINE]
PMCID:
PMC3078697
Free PMC Article
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