3 ms·

I guess what I'd like to know is (and I'm specifically asking you because you seem to be knowledgeable): 1. It sounds like de-novo mutations are the best theor

I guess what I'd like to know is (and I'm specifically asking you because you seem to be knowledgeable): 1. It sounds like de-novo mutations are the best theory for 70%+ of autism cases per this paper, right? 2. Does anybody track the "base rate" of de-novo mutations / generation in humans? If so, how many generations back do we have data for, and how many regions? 3. Aren't we seeing an increase in autism is developed nations even within poor uneducated families with young parents?

owlmonkey 7y ago
One study says ~38 individual base mutations per generation, but that increases by about 2 bases per year of the father's age, which is still not much given 6 billion base pairs in humans. (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548427/ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548427/) These studies, however, are missing rearrangements and other spontaneous structural changes which might not modify the genes at all but might change their expression or dosage. We don't have enough data yet about structural mutation rates, the technology to assess that at scale and low cost is only coming online now. Not sure about the incident rate, but since the guidelines for reporting have widened so much in the last decade that might mask any ability to really know.