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Atypical genomic patterning of the cerebral cortex in autism with poor early language outcome

By Michael V. Lombardo, Lisa Eyler, Tiziano Pramparo, Vahid H Gazestani, Donald J. Hagler, Chi-Hua Chen, Anders M Dale, Jakob Seidlitz, Richard A.I. Bethlehem, Natasha Bertelsen, Cynthia Carter Barnes, Linda Lopez, Kathleen Campbell, Nathan E. Lewis, Karen Pierce, Eric Courchesne

Posted 18 Aug 2020
bioRxiv DOI: 10.1101/2020.08.18.253443

Cortical regional identities develop through anterior-posterior (A-P) and dorsal-ventral (D-V) prenatal genomic patterning gradients. Here we find that A-P and D-V genomic patterning of cortical surface area (SA) and thickness (CT) is intact in typically developing and autistic toddlers with good language outcome, but is absent in autistic toddlers with poor early language outcome. Genes driving this effect are prominent in midgestational A-P and D-V gene expression gradients and prenatal cell types driving SA and CT variation (e.g., progenitor cells versus excitatory neurons). These genes are also important for vocal learning, human-specific evolution, and prenatal co-expression networks enriched for high-penetrance autism risk genes. Autism with poor early language outcome may be linked to atypical genomic cortical patterning starting in prenatal periods and which impacts later development of regional functional specialization and circuit formation. ### Competing Interest Statement The authors have declared no competing interest.

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