Mutation of the Doublecortin Gene in Male Patients with Double Cortex Syndrome: Somatic Mosaicism Detected by Hair Root Analysis

The study investigated the molecular basis of double cortex syndrome in 2 male patients, revealing that somatic mosaic mutations in the doublecortin gene could cause subcortical band heterotopia. Both patients exhibited heterozygous mutations (Asp50Lys or Arg39Stop) and inherited a single X chromosome from their mothers. Analysis of DNA from hair roots showed four different patterns of cells with wild and mutant alleles, indicating somatic mosaicism. The research concluded that hair root molecular analysis is an effective method for detecting somatic mosaicism in such cases.