[/caption]According to the American Journal of Human Genetics, Weaver syndrome is a "rare genetic disorder that results in large size at birth, tall stature, developmental delay during childhood, and intellectual disability." Scientists have recently found a gene that causes Weaver syndrome. This finding allows testing for the EZH2 gene for mutations that could help in the diagnosis of patients. The EZH2 gene helps determine which genes are turned off and on by regulating how DNA is packaged around proteins. This study is a great aide and improvement in diagnosing patients of Weaver syndrome compared to how patients are currently diagnosed. Presently, doctors simply assess the patients physical features to determine if they show signs of Weaver syndrome. This gene discovery and testing will give patients and their family DNA confirmation that they have Weaver syndrome.
