An Unorthodox Disease Mechanism
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases
Essential proteins are defined as those that are necessary for living. In theory, homozygous loss-of-function variants that only affect certain isoforms may still be found in living individuals. A recent study involving patients that were identified at CENTOGENE presents one of the first examples of a disease-relevance of this rare constellation. It was published in the highly prestigious journal, Acta Neuropathologica.