Archive for the ‘autism spectrum disorder’ Category

Post-zygotic Mutations, spontaneously arising in an embryonic cell after sperm meets egg, are important players in Autism Spectrum Disorder, a HMS & BCH large study suggests

Reporter: Aviva Lev-Ari, PhD, RN


Based on their findings, they classified 7.5 percent of ASD subjects’ de novo mutations as PZMs. Of these, 83 percent had not been picked up in the original analysis of their genome sequence.

Some PZMs affected genes already known to be linked to autism or other neurodevelopmental disorders (such as SCN2AHNRNPU and SMARCA4), but sometimes affected these genes in different ways. Many other PZMs were in genes known to be active in brain development (such as KLF16 and MSANTD2) but not previously associated with ASD.

Comparing these with the genomic sequencing data (based mostly on blood DNA samples) allowed the researchers estimate the timing of the PZMs and the brain regions they affected. In the image at right, representing the prenatal brain, the region with the most “hits” was the amygdala (AMY, in red), with minor hits in the striatum (STR) and cerebellar cortex (CBC) that did not reach statistical significance.

Image Credit: Mohammed Uddin



Late-breaking mutations may play an important role in autism

Late in the Game, Post-conception mutations may play an important role in autism

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

Nature Neuroscience (2017) doi:10.1038/nn.4598
Published online: 17 July 2017

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