Role of somatic mosaicism in neurologic disease
Is somatic mosaicism known to play a role in neurologic disease?
In addition to inherited DNA variation, disease-causing mutations can occur during mitotic cell divisions.
Most cancer mutations are known to arise somatically. Mutations occurring during the mitoses that generate the embryo after fertilization and zygote formation may lead to mosaicism, a condition in which only a subset of the organism’s cells harbor the mutation.
Somatic mutations can also arise during the course of prenatal brain development and cause neurologic disease.
Examples of neurodevelopmental disorders associated with somatic mosaicism in about 5% to 10% of patients include genetic disorders of neuronal migration caused by mutations in LIS1 and DCX .
Detection of somatic mosaicism may be challenging as the mutation may not be present in all tissues and cell types.