Abstrakt
Shwachman-Diamond syndrome (SDS, On-line Mendelian Inheritance in Man (OMIM) #260400) is an autosomal recessive condition, characterized by pancreatic exocrine insufficiency, skeletal abnormalities, bone marrow failure, and an increased risk of myelodysplastic syndrome (MDS) and acute myeloid leukaemia (AML), the latter occurring in 19-36% of patients (Shimamura, 2006). Compound heterozygous mutations in SBDS are identified in the majority of SDS patients.
Of the two most frequently found mutations in SBDS, 183-184TA>CT and 258+2T>C, at least one is present in approximately 90% of affected individuals. These mutations are located in exon 2, and result from gene conversion with SBDSP1, the SBDS pseudogene (Boocock et al, 2003).
Although its exact function remains unclear, the SBDS protein appears to have a role in ribosome maturation, and might have additional extraribosomal functions (Finch et al, 2011; Johnson & Ellis 2011).