Autism and Effects of Copy Number Variations of the 16p11.2 BP4-BP5 Gene

According to a study published in the Journal of Biological Psychiatry November 5, 2015, gene deletions and copies at the 16p11.2 BP4-BP5 locus are “highly associated” with autism spectrum disorder and schizophrenia. The study assessed the effects of “62 deletion carriers, 44 duplication carriers and 71 intrafamilial control subjects.”

Results of the study showed that although IQ was decreased for both deletion carriers and duplication carriers, there was variance in language, verbal memory and inhibition between the two types of carriers.  Deletion carriers had “severe impairments of phonology and of inhibition skills beyond what is expected for their IQ level.” However, for those with gene duplication, “verbal memory and phonology” was improved compared to the control subjects.

The study authors note that further research is needed to replicate the findings regarding this gene locus associated with autism and to explain the molecular mechanisms that affect these types of cognition.

Advertisements

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s