August 30, 2010
TORONTO, ON – Researchers from the University of Toronto are part of an international team which has identified the gene causing the childhood form of epilepsy known as Mabry Syndrome.
In an article published Aug. 30, 2010 in the journal Nature Genetics entitled ‘Identity-by-Descent Filtering of Exome Sequence Data identifies PIGV mutations in Hyperphosphatasia Mental Retardation syndrome (HPMR),’ an international team including Dr. Miles Thompson and Dr. David Cole detail how they identified that mutations in the PIGV gene are often associated with Mabry Syndrome – a rare genetic disorder which results in developmental delay and seizures.
“Identifying the gene responsible is a key element in diagnosing Mabry Syndrome. While we are looking for other genes involved, it remains an important step toward improving treatments,” said Dr. Thompson (Department of Laboratory Medicine and Pathobiology, Banting Institute, University of Toronto, Canada).
Along with Dr. David Cole, Sunnybrook Health Sciences Centre, Dr. Marjan Nezarati at North York General Hospital in Toronto and researchers in Germany, the Netherlands and France, Dr. Thompson coordinated the Canadian portion of the project – which used homozygosity mapping, exome sequencing and a candidate gene approach to identify the role of the PIGV gene in cases of Mabry syndrome.
The discovery of the gene builds on research published in the July 2010 edition of the American Journal of Medical Genetics by Dr. Thompson, Dr. Marjan Nezarati, Dr. David Cole and colleagues, which defined the syndrome for the first time and allowed the identification of the gene for the disorder, which will now allow better diagnosis of the condition – and ultimately better treatment for patients and their families.
Dr. Thompson’s contribution to the discovery reported in Nature Genetics is the result of four years of research work made possible by financial support from Epilepsy Canada, and he will be a recipient of a special award from the organization’s president, Don Weaver, on Aug. 31 at a public Epilepsy Canada meeting. For more information on the event, see www.epilepsy.ca.