The following information may help to address your question:
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
In cases where no SBDS mutation is found, the cause of this disorder is unknown.
The mode or type of inheritance of Shwachman-Diamond syndrome in individuals without an identified SBDS mutation is unknown.