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Studies Indicate How Mosaic Mutations Contribute to Autism Risk

Studies Indicate How Mosaic Mutations Contribute to Autism Risk
January 13, 2021
Two studies published in
Nature Neuroscience implicate mosaic mutations arising during embryonic development as a cause of autism spectrum disorder (ASD). The investigations, led by researchers at Boston Children’s Hospital, Brigham and Women’s Hospital (BWH), and Harvard Medical School (HMS), point to new areas for exploring the genetics of ASD and could eventually inform diagnostic testing.
The two reported studies were part of the Brain Somatic Mosaicism Network, funded by the National Institute of Mental Health. One study (“The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing”) exploited deep, ultra-high-resolution whole-genome sequencing to quantify and characterize mosaic mutations in the frontal cortex of people with and without ASD. The research was led by Rachel Rodin, MD, PhD, an ....

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Advances in understanding autism, based on

Two studies in today s
Nature Neuroscience, led by researchers at Boston Children s Hospital, Brigham and Women s Hospital (BWH), and Harvard Medical School (HMS), implicate mosaic mutations arising during embryonic development as a cause of autism spectrum disorder (ASD). The findings open new areas for exploring the genetics of ASD and could eventually inform diagnostic testing.
Mosaic mutations affect only a portion of a person s cells. Rather than being inherited, they arise as a mistake introduced when a stem cell divides. A mutation in a stem cell will only be passed to the cells that descend from it, producing the mosaic pattern. When mosaic mutations occur during embryonic development, they can appear in the brain and affect the function of neurons. The earlier in development a mutation happens, the more cells will carry it. ....

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