Gene Discovered for Weaver Syndrome

Scientists have discovered a gene that causes Weaver syndrome, a rare genetic disorder that usually causes large size at birth, tall stature, developmental delay during childhood, and intellectual disability. The discovery will now allow for DNA-based diagnostic testing for the disease. For patients suspected to have Weaver syndrome, it can now be confirmed if there is found to be mutations in the EZH2 gene. Currently, physicians diagnose Weaver syndrome through the assessment of physical characteristics. Furthermore, the finding has helped to confirm that suspicion that mutations in EZH2 early in life produce developmental syndromes such as Weaver syndrome, while mutations in the same gene that occur later in life can result in cancer. There may be other genes involved in Weaver syndrome that have yet to be discovered.

Link to the article: http://www.sciencedaily.com/releases/2011/12/111215232724.htm