Significance
We describe a genomic disorder that causes obesity, intellectual disability, and seizures. Children with this syndrome carry an unbalanced chromosome translocation that results in the duplication of over 100 genes, including
G protein β3
(
GNB3
). Although
GNB3
polymorphisms have been associated with obesity, hypertension, and diabetes, the mechanism of
GNB3
pathogenesis is unknown. We created a transgenic mouse model that carries a duplication of
GNB3
, weighs significantly more than wild-type mice, and has excess abdominal fat.
GNB3
is highly expressed in the brain and may be important for signaling related to satiety and/or metabolism.
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