CeGaT successfully clarified the cause for a patient’s disease by sequencing and diagnosing the exomes of the young patient and their parents. A point mutation was found in the gene SATB2 which caused the disease. To date, only one mutation in the SATB2-gene has been identified worldwide. Together with the Klinikum Stuttgart, the phenotype of the SATB2-associated syndrome (SAS) was described and published in the European Journal of Human Genetics.
Gene mutation for common childhood epilepsy discovered with the help of CeGaT’s Epilepsy panel.
More than 50 million people worldwide have epilepsy, a third of whom are children. The most common forms of epilepsy in children occur without apparent cause and affect only certain brain regions. They are called idiopathic focal epilepsy (IFE). Characteristic of this disease is a seizure origin in the so-called Rolandic region of the brain. Now it is possible to identify the first disease gene for idiopathic focal epilepsies. It involves the gene GRIN2A. Changes in the gene lead to disturbances in the function of an important ion channel in the brain that affects the electrical excitability of nerve cells. This can explain the increased electrical discharges in the brain and thus the occurrence of epileptic seizures. The study has been published in the international journal Nature Genetics.
With their Next-Generation Sequencing subpanel of 265 genes, Johannes Lemke and Saskia Biskup identified mutations in 16/33 patients with unclassified, presumably genetic epilepsy.
The results published in Epilepsia last week are quite impressive.
The group of Dr. Holger Prokisch, Institute of Human Genetics, Helmholtz Zentrum, Munich, Germany, was able to identify a new gene (ACAD9) as cause of complex I deficiency, a severe mitochondrial disorder. The gene was identified through Exome Sequencing performed at CeGaT GmbH.
Most interestingly, this study demonstrates how Exome Sequencing can contribute to finding the underlying gene and by this laying out the basis for functional experiments that can lead to new treatment options in so far undiagnosed cases.