Somatic Mutations in Cerebral Cortical Malformations

Somatic mutations can cause brain malformations but may escape detection if their prevalence in blood is low. The authors of this study used deep-coverage targeting sequencing to gauge the extent to which somatic mutations cause relatively common forms of brain malformation. Somatic mutation, a postzygotic event, leads to two or more populations of cells with distinct genotypes in an organism, despite development from a single fertilized egg. 1 , 2 Although the role of somatic mutation in cancer cells is well established, 3 an analogous role for somatic mutations that occur randomly during the normal mitotic cell divisions of embryonic development — and that are therefore present in clones of cells in one or more tissues of the body — has been recognized only recently. Somatic mutations have been described in several noncancerous disorders, including the McCune–Albright syndrome, 4 the Sturge–Weber syndrome, 5 the Proteus syndrome, . . .