Researchers have identified three new pathogenic variants (genetic change that can increase an individual’s likelihood to develop a certain disease or disorder) in two Usher syndrome genes, USH2A and ADGRV1. Two sisters with hearing loss and retinitis pigmentosa had a variant in ADGRV1. In another case, a child with hearing loss had two new USH2A variants. In both cases the pathogenic variants result in a non-functional protein. The USH2A variants were found in another family initially diagnosed with vision loss and subsequently confirmed of pre-existing hearing loss since childhood, resulting in a reassigned diagnosis of Usher syndrome.
What this means for Usher syndrome: Finding out about more pathogenic variants mean that individuals can receive proper early diagnoses for what they actually have. This allows individuals to receive the care right for them sooner, including individuals with Usher syndrome.