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Gene discovered for Weaver syndrome
Date:12/15/2011

Scientists have found a gene that causes Weaver syndrome, a rare genetic disorder that typically causes large size at birth, tall stature, developmental delay during childhood, and intellectual disability. Published today in the American Journal of Human Genetics, the discovery means that testing the EZH2 gene for mutations could help families who are seeking a diagnosis for their child.

"For the families among whom we identified the gene, this discovery definitively brings the diagnostic odyssey to a close it's DNA confirmation that their children have Weaver syndrome," says Dr. William Gibson, the study's lead investigator. Dr. Gibson is a clinician scientist at the Child & Family Research Institute at BC Children's Hospital and an assistant professor in the Department of Medical Genetics at the University of British Columbia (UBC).

"Our discovery enables DNA-based diagnostic testing for this particular disease," says Dr. Gibson. "For physicians who suspect Weaver syndrome in one of their patients, we can now confirm it if we find mutations in EZH2. There may still be other Weaver syndrome genes, and we need to study more families to be sure."

Presently, doctors diagnose Weaver syndrome by assessing a child's face, growth, skeleton and other clinical features. People with Weaver syndrome have an oversized head, typical facial features, problems with muscle tone and joints, and differences in the way their skeleton matures. Mutations in the NSD1 gene, which normally causes a rare disease called Sotos syndrome, are also known to cause Weaver syndrome in some cases. There may be other genes involved in Weaver syndrome that are yet to be discovered.

"Now we have an answer for these families and we are also in a position to provide answers to other families affected by this rare and difficult disease," says Dr. Gibson. He is available to see new patients clinically for diagnosis of Weaver syndrome. As a result of this d
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Contact: Jennifer Kohm
jkohm@cfri.ca
604-875-2401
Child & Family Research Institute
Source:Eurekalert

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