In previous studies, the allele fractions of somatic mutations in the peripheral tissues of patients with brain malformations were reported to range between 1 and 43% for PIK3CA18 and between 5 and 35% for DCX and LIS1. 19 The allele fractions of somatic mutations in blood samples ranged between 1.1 and 7.3% in our study. The gene discussed is PAFAH1B1; the disease is cerebral malformation.