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.

Written byKerry Grens
| 1 min read

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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 ...

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  • kerry grens

    Kerry served as The Scientist’s news director until 2021. Before joining The Scientist in 2013, she was a stringer for Reuters Health, the senior health and science reporter at WHYY in Philadelphia, and the health and science reporter at New Hampshire Public Radio. Kerry got her start in journalism as a AAAS Mass Media fellow at KUNC in Colorado. She has a master’s in biological sciences from Stanford University and a biology degree from Loyola University Chicago.

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