Ivan Iossifov, et al., De Novo Gene Disruptions in Children on the Autistic Spectrum, Neuron 74 (2012)
Exome sequencing of 343 families, each with a single child on the autism spectrum and at least one unaffected sibling, reveal de no small indels and point substitutions, which com mostly from the paternal line in an age-dependent manner.
We project overall rates of de novo mutation to be 120 per diploid genome per birth. Most small-scale de novo mutation comes from fathers, and is related to parental age.
From sequencing adjacent linked polymorphisms in children and parents, we infer that on the order of 3/4 of new point mutations (50 of 67) derive from the father’s germline. These data confirm the paternal line is the main source for these of new human variation.