Total RNA Sequencing. Young male scientist prepares sequencer.

CeGaT’s Exome Sequencing identifies the cause of a rare syndrom

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.