Definition: Shwachman-Diamond syndrome (SDS) is an autosomal recessive syndrome characterized by bone marrow failure, pancreatic exocrine insufficiency, skeletal defects, an increased risk of hematologic cancers and abnormal telomere shortening.
Mutations in the gene SBDS are found in >90% of patients with SDS. Indirect evidence suggests that the SBDS gene product may function in RNA metabolism.
There is no evidence of a reduction in telomerase activity in lymphocytes from SDS patients or a physical interaction between the SBDS gene product and the telomerase complex of hTR and hTERT.