De Novo Gene Disruptions in Children on the Autistic Spectrum

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.

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