More Mutations in Girls with Autism

A greater number of genetic mutations among autistic girls, compared to their male counterparts, suggests that the female brain can better handle such variations.  

Mar 4, 2014
Kerry Grens

WIKIMEDIA, WILLIAM M. CONNOLLEYCompared to boys with autism, girls with the developmental disorder have more copy number variations and single nucleotide polymorphisms (SNPs) in their genomes. This finding—together with the observation that autism is more common among boys—supports the idea that the female brain is more resilient in the face of genetic perturbations.

“In the male, maybe more subtle things are enough to create a disorder,” geneticist Jean-Louis Mandel of the Collège de France in Paris and the University of Strasbourg who was not involved in the study, told USA Today.

A team led by investigators at the University of Lausanne in Switzerland reported in the American Journal of Human Genetics last week (February 27) that among the autistic children in 762 families, girls had three times as many deleterious copy number variants, for instance. Mothers of children with a neurodevelopmental disorder were also more likely to have genetic mutations than fathers.

“Females function a lot better than males with similar mutations,” study author Sébastien Jacquemont from the University Hospital of Lausanne told New Scientist. What’s behind this supposed protection in the female brain is of interest for developing treatments. “There’s something that’s protecting [female] brain development,” he said.