Shwachman-Diamond syndrome historical perspective

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Historical Perspective

The disease was first described as a coherent clinical entity in May 1964 by Bodian, Sheldon, and Lightwood. It was subsequently described by Shwachman, Diamond, Oski, and Khaw in November of the same year. In 2001, linkage analysis in SDS families indicated that affected gene mapped to a large region of human chromosome seven. In 2002, this interval was refined to a 1.9 centimorgan region on the long arm of the chromosome next to the centromere. In 2003 mutations in the SBDS[2] gene (Shwachman-Bodian-Diamond syndrome) were found to be associated with disease.