Shwachman-Diamond Syndrome

New shwachman-diamond syndrome data have been reported by E. Costa and co-authors

Published in Blood Weekly, September 20th, 2007

According to a study from Oporto, Portugal, "Shwachman-Diamond syndrome (SDS) is caused by mutations in the SBDS gene, most of which are the result of gene conversion events involving its highly homologous pseudogene SBDSP. Here we describe the molecular characterization of the first documented gross deletion in the SBDS gene, in a 4-year-old Portuguese girl with SDS."

"The clinical diagnosis was based on the presence of hematological symptoms (severe anemia and cyclic neutropenia), pancreatic exocrine insufficiency and skeletal abnormalities. Routine molecular screening revealed heterozygosity for the common splicing mutation c.258+2T > C, and a further step-wise...

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Source: Blood Weekly (2007-09-20)

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