title: Somatic mutation, genomic variation, and neurological disease.
abstract: Genetic mutations causing human disease are conventionally thought to be inherited through the germ line from one's parents and present in all somatic (body) cells, except for most cancer mutations, which arise somatically. Increasingly, somatic mutations are being identified in diseases other than cancer, including neurodevelopmental diseases. Somatic mutations can arise during the course of prenatal brain development and cause neurological disease-even when present at low levels of mosaicism, for example-resulting in brain malformations associated with epilepsy and intellectual disability. Novel, highly sensitive technologies will allow more accurate evaluation of somatic mutations in neurodevelopmental disorders and during normal brain development.
authors.affiliation: Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
authors.forename: Annapurna
authors.initials: A
authors.lastname: Poduri
authors.forename: Gilad D
authors.initials: GD
authors.lastname: Evrony
authors.forename: Xuyu
authors.initials: X
authors.lastname: Cai
authors.forename: Christopher A
authors.initials: CA
authors.lastname: Walsh
mesh_terms: D001927:Brain Diseases / Q000235:genetics* / Q000473:pathology; D002540:Cerebral Cortex / Q000254:growth & development / Q000378:metabolism / Q000473:pathology; D054221:Classical Lissencephalies and Subcortical Band Heterotopias / Q000235:genetics / Q000473:pathology; D004252:DNA Mutational Analysis; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D054082:Lissencephaly / Q000235:genetics / Q000473:pathology; D009030:Mosaicism; D009154:Mutation