Shwachman-Diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and bones.

Mutations in the SBDS gene have been identified in about 90 percent of people with the characteristic features of Shwachman-Diamond syndrome. This gene provides instructions for making a protein that is critical in building ribosomes. Ribosomes are cellular structures that process the cell's genetic instructions to create proteins. SBDS gene mutations reduce the amount or impair the function of the SBDS protein. It is unclear how these changes lead to the major signs and symptoms of Shwachman-Diamond syndrome. Researchers suspect that a shortage of functional SBDS impairs ribosome formation, which may reduce the production of other proteins and alter developmental processes.

Shwachman-Diamond syndrome is a rare condition that is thought to occur in approximately 1 in 80,000 newborns. Because the signs and symptoms are variable and can be mild in some affected individuals, doctors suspect the condition is underdiagnosed.

Most cases of Shwachman-Diamond syndrome, including those caused by mutations in the SBDS gene, are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Typically, the parents of the affected individual each carry one copy of the mutated gene, but they do not show signs and symptoms of the condition. In some cases, one parent does not carry a copy of the mutated gene. Instead a new (de novo) mutation occurs in the gene during the formation of reproductive cells (eggs or sperm) in the parent or during early embryonic development.

Published Date: March 01, 2020
Published By: National Institutes of Health