Identifying relevant genetic interactions contributing to neurodevelopmental disorders is a huge challenge facing the field. Now, a study from researchers at the Whitehead Institute identifies a direct link between deletions in two genes, namely fam57ba and doc2a, and brain-body traits, such as seizures, hyperactivity, enlarged head size, and obesity. The team state their findings point to future analyses addressing the molecular pathways by which these genes control synaptic activity and their cellular targets. The opensource study is published in the journal Human Molecular Genetics.
Previous studies show that both the fam57ba and doc2a genes reside in the 16p11.2 region of human chromosome 16. Around 4 million people worldwide, have deletions in this region which are associated with autism spectrum disorders, developmental delay, intellectual disability, seizures, and obesity. The current study demonstrates that one pair of 16p11.2 homologs can regulate both brain and body phenotypes which are reflective of those in people with 16p11.2 deletion.
For the future, the researchers state their data suggest that there may be metabolic genes involved in human neurodevelopmental disorders.
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