Shwachman-Diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system. Most cases of Shwachman-Diamond syndrome are caused by mutations in the SBDSgene.8307] In cases where no SBDS mutation is found, the cause of this disorder is unknown. This condition is inherited in an autosomal recessive manner. Treatment may include enzyme and vitamin supplementation, blood and/or platelet transfusion, administration of granulocyte-colony stimulating factor (G-CSF), and/or hematopoietic stem cell transplantation.
Last updated: 6/23/2015
How is Shwachman-Diamond syndrome inherited?
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene (called carriers), but they typically do not show signs and symptoms of the condition.
The mode or type of inheritance of Shwachman-Diamond syndrome in individuals without an identified SBDS mutation is unknown.
Last updated: 6/9/2017
Can the brother or sister of a carrier of Shwachman-Diamond syndrome also be a carrier?
Each brother or sister of a carrier of Shwachman-Diamond syndrome has a 50% chance of being a carrier (having the gene mutation) and a 50% chance of not being a carrier.
If a relative is known to carry an SBDS mutation, other family members can consider genetic testing to determine whether they are carriers. Meeting with a genetics professional can help determine what, if any, genetic testing is appropriate.
Last updated: 2/11/2015
Is genetic testing available for Shwachman-Diamond syndrome?
Genetic testing is available for SBDS, the gene known to cause most cases of Shwachman-Diamond syndrome (SDS).Carrier testing for at-risk relatives and prenatal testing are possible if both disease-causing changes (mutations) in the family are known.
In less than 10% of people with SDS, no mutation in the SBDS gene is identified. The exact underlying cause of the condition in these cases is unknown. Genetic testing is not an option for these families.
Last updated: 6/9/2017
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