Gender bias in neurodevelopmental disorders

It has long been observed that males are more affected by neuro-developmental disorders such as autism than females. In a study initiated by Sébastien Jacquemont from the Service of Medical Genetics in collaboration with the group of Evan Eichler from the University of Washington, we investigated the CNV burden of autistic patients and close relatives. We could show that females diagnosed with autism have on average more deleterious mutations in genes involved in neuro-developmental disorders than males, hinting that women can cope with a higher mutational men. With the same mutational burden, males tend to be more often diagnosed than females. This is unlikely to be due to social factors only, because most of the deleterious mutations in genes important for brain function are transmitted by the non-affected mothers, showing that they can tolerate more mutations than the non-affected fathers. This study was published in the American Journal of Human Genetics and featured in the French newspaper Le Figaro and in the Economist

Jacquemont S, Coe BP, Hersch M, Duyzend MH, Krumm N, Bergmann S, Beckmann JS, Rosenfeld JA, Eichler EE
A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders.
Am J Hum Genet: 2014 Mar 6, 94(3);415-25
[PubMed:24581740] [WorldCat.org: ISSN ESSN ] [DOI] ( o)