Mutations in the SBDS gene in acquired aplastic anemia.

  title={Mutations in the SBDS gene in acquired aplastic anemia.},
  author={Rodrigo T. Calado and Solomon A Graf and Keisha L Wilkerson and Sachiko Kajigaya and Philip James Ancliff and Yigal Dror and Stephen J. Chanock and Peter M. Lansdorp and Neal S. Young},
  volume={110 4},
Shwachman-Diamond syndrome (SDS; OMIM 260400), an inherited bone marrow failure syndrome, is caused by mutations in both alleles of the SBDS gene, which encodes a protein of unknown function. Here we report heterozygosity for the 258 + 2 T>C SBDS gene mutation previously identified in SDS patients in 4 of 91 patients with apparently acquired aplastic anemia (AA) but not in 276 ethnically matched controls (Fisher exact test, P < .004). Affected patients were young and had a poor outcome; they… CONTINUE READING