[/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.
I've never heard of this disorder before. It's awesome that they found the gene that codes for Weaver's syndrome though. It means they are one step closer to hopefully curing it. I feel like the improvement of diagnosis isn't really an improvement really. If they had the means already, this is just another way of verification I guess. I feel like the parents of these children were probably hoping for something more substantial. Hopefully, they can eliminate such a disorder soon!
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