Non–Diamond Blackfan Anemia Disorders of Ribosome Function: Shwachman Diamond Syndrome and 5q- Syndrome
Nicholas Burwick, Akiko Shimamura, Johnson M. Liu
20110301
2011 Apr 1
Semin Hematol
Non–Diamond Blackfan Anemia Disorders of Ribosome Function: Shwachman Diamond Syndrome and 5q- Syndrome
Semin Hematol. 2011 Apr;48(2):136-143, Nicholas Burwick, Akiko Shimamura, Johnson M. Liu
Abstract
A number of human disorders, dubbed ribosomopathies, are linked to impaired ribosome biogenesis or function. These include but are not limited to Diamond Blackfan anemia (DBA), Shwachman Diamond syndrome (SDS), and the 5q- myelodysplastic syndrome (MDS). This review focuses on the latter two non-DBA disorders of ribosome function. Both SDS and 5q- syndrome lead to impaired hematopoiesis and a predisposition to leukemia. SDS, due to bi-allelic mutations of the SBDS gene, is a multi-system disorder...
