Citations 2

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Human Mutation | March 2, 2016 | Volume: 37 | Issue: 7 | Pages: 653-660

10.1002/humu.22983 | PMID 26931382

Mouse model implicates GNB3 duplication in a childhood obesity syndrome

Proceedings of the National Academy of Sciences | August 26, 2013 | Volume: 110 | Issue: 37 | Pages: 14990-14994

10.1073/pnas.1305999110 | PMID 23980137

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.