

Simple genetic models for autism spectrum disorder - vectorbunny
http://biorxiv.org/content/early/2015/03/30/017301

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stitchy
_" Our model makes two very strong predictions. The first is that the rate of
de novo mutations in affected children from multiplex families will be barely
above that of an unaffected control population. On this point, the literature
presently has conflicting reports [3,6,22]. The samples needed to resolve this
question properly, namely blood derived DNAs from multiplex families, has
either not yet been collected or sequenced. The second prediction made by our
model is that there will be a high rate of transmission of strong alleles in
multiplex families, typically from the mother, and in the same genes targeted
by de novo mutation in simplex autism. While there is some indirect support
for a female carrier effect based on half-sibs [23], a genetic study of
transmission based on the targets of de novo mutation is only now possible
[21]."_

This seems like a succinct summary for the paper. Or at least, it's the part
that stuck out to me.

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t413
_" This model makes strong and as yet not fully tested predictions, namely
that females are the primary carriers in cases of genetic transmission"_

No kidding. Quite interesting though, especially when combined with _" The
high reproductive costs of autism ensure that most strongly associated genetic
mutations are short-lived"_ and ASD showing a gender bias toward males.

