Genetic variations in autism spectrum disorder genomic region may affect cognitive functions

Written by Sonia Mannan

Researchers led by Sébastien Jacquemont (University of Montreal, Canada) have conducted the first study to examine the effects of duplications and deletions in 16p11.2, a genomic region associated with autism spectrum disorder (ASD), on specific cognitive domains. It was demonstrated that these alterations affect specific cognitive functions, highlighting the complexity and diversity of ASD. The findings were published in the journal Biological Psychiatry. The study investigated the relationship between the number of genomic copies at the 16p11.2 locus and cognitive domains: they assessed 62 deletion carriers, 44 duplication carriers and 71 intrafamilial control subjects. Although a lower IQ was observed...

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