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Dr. Raphael Bernier
A paper published this week in Nature Genetics found that some children with autism are more likely to have inherited gene mutations most often occurring from mothers to sons. Dr. Raphael Bernier, clinical director of Seattle Children’s Autism Center and an investigator in the study, discusses this further on Seattle Children’s Hospital blog, On the Pulse.
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Could it be that children born with autism got it from their parents gene? I am really interested for clarifications on this issue.
Understanding the genetic contributions to autism is very complicated but we’ve made striking gains just in the past 5 years…and mainly driven by work happening here in Seattle. Firstly, we’ve identified several genes (hundreds) that when they are newly disrupted they likely play a causal role in autism. By newly disrupted I mean the gene doesn’t make the protein it’s supposed to make in the child (that’s the disrupted part), but in both parents the gene is functioning appropriately so it’s only disrupted in the child (that’s the newly part). This is called a de novo mutation. These de novo gene events account for about 30% of boys with autism and 45% of girls with autism. With this most recent paper we’ve identified several additional genes beyond those mentioned above that aren’t disrupted in the same way as those de novo mutations, but show an extremely rare variant. When mothers have those rare variants the moms don’t have autism and when they pass those rare variant onto their daughters, the daughters don’t have autism, BUT when they pass those rare variants onto their sons, then the sons have autism. This doesn’t mean that mothers cause or are responsible for their son’s autism. This paper identifies several more genes that play a contributory role in autism and highlights that there is something protective about being female for these particular gene variants.