Hematologically important mutations: Shwachman-Diamond syndrome.
Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, and skeletal abnormalities. The Shwachman-Bodian-Diamond syndrome (SBDS) gene was identified as a causative gene for SDS in 2003, and genetic analyses of SDS have been performed. Over the last 4 years, a number of different mutations affecting the SBDS gene have been described. In this report, a summary of documented SDS associated mutations is provided.
Costa
Elísio
E
Escola Superior de Saúde, Instituto Politécnico de Bragança, Avenida D. Afonso V, 5300-121 Bragança, Portugal. elisio.costa@ipb.pt
Santos
Rosário
R
D001855:Bone Marrow Diseases / Q000235:genetics*; D010188:Exocrine Pancreatic Insufficiency / Q000235:genetics*; D006801:Humans; D009154:Mutation; D011506:Proteins / Q000235:genetics*; D013577:Syndrome
D011506:Proteins; C470521:SBDS protein, human