Genetic modifier in Usher syndrome will lead to better diagnosis
Gothenburg, Sweden: Usher syndrome (USH), an inherited condition involving both hearing and vision loss, is not a simply recessively inherited disease, a scientist will tell the annual conference of the European Society of Human Genetics today. Dr. Hanno Bolz, Associate Medical Director of the Bioscientia Centre for Human Genetics, Ingelheim, Germany, and active in teaching and research at the University Hospital of Cologne, will say that his team's research challenges the traditional view that USH was inherited as a single gene disorder, and shows that it may result from at least two different genetic mutations. This could lead to more accurate diagnosis of this condition, which is responsible for up to 10% of all cases of childhood deafness and 50% of all deaf/blindness in adults.