The purpose of this overview is to increase the clinician's awareness of the clinical phenotypes, genetic causes, and management of tubulinopathies, a wide, overlapping range of brain malformations caused by pathogenic variants of genes encoding different isotypes of tubulin.
The following are the goals of this overview.
Goal 1: Describe the clinical characteristics of tubulinopathies.
Goal 2: Review the genetic causes of tubulinopathies.
Goal 3: Review the differential diagnosis of tubulinopathies.
Goal 4: Provide an evaluation strategy to identify the genetic cause of a tubulinopathy in a proband (when possible).
Goal 5: Review general medical management of tubulinopathies.
Goal 6: Inform genetic counseling of family members of an individual with a tubulinopathy.
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