Shwachman-Diamond Syndrome (Shwachman-Bodian-Diamond syndrome, 7q11)

Reference work entry
DOI: https://doi.org/10.1007/978-1-4020-6754-9_15571

Pancreatic insufficiency, blood and bone abnormalities, and increased hematological cancer risk; probably recessive. The yeast ortholog, Sdo1 is critical for the release and recycling of the nucleolar shuttling factor Tif6 (ribosome biogenesis factor) from pre-60S ribosomes, a key step in 60S maturation and translational activation of ribosomes and its defect predisposes to bone marrow failure and leukemia (Menne TF et al 2007 Nature Genet 39:486).

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