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Gene Mutations That Cause Deafness Identified LONDON, ENGLAND -- February 6, 1998 -- Genetic deafness affects about four percent of people younger than 45 years. About 80 percent of these cases seem to be sporadic. In this week's The Lancet, Dr. Xavier Estivill and colleagues report investigations into gene mutations that might cause inherited and sporadic deafness. The investigators took blood samples from 82 families that had members with inherited or sporadic deafness, 54 unrelated participants with apparently sporadic deafness, and 280 members of the general public from Italy and Spain. They used DNA testing to look for mutations in the connexin-26 gene, which has been associated with deafness. In the study, 49 percent of participants with inherited and 37 percent with sporadic deafness had mutations in this gene. As well, 85 percent of all these mutations were a mutation called 35delG. One in 31 people from the general population could be carriers of this mutation, whether or not they were deaf. The investigators conclude that mutations in the GJB2 gene are a major cause of inherited and apparently sporadic congenital deafness and should facilitate diagnosis and counselling. E-mail this page to a friend or colleague! To print, use this version