New Way to Identify Usher Syndrome in Children

Background: Usher syndrome Type 1 is an inherited disorder. Children born with this disorder are deaf, suffer balance problems, and gradually lose their vision. Although Usher syndrome affects individuals of other racial and ethnic backgrounds, scientists have recently identified a clear pattern of its inheritance in Ashkenazi Jews. Ashkenazi Jews are descendants of Jews from Germany, Poland, Austria and Eastern Europe.

Advance: In 2003, a NIDCD-supported scientist identified a mutation within the gene known to be responsible for Usher syndrome. The particular mutation seems to be responsible for most of the Usher syndrome seen in Ashkenazi Jews.

Implications: Because scientists now know which gene is responsible for this type of Usher syndrome, they can develop genetic tests to detect the mutation in Ashkenazi Jewish children who are born deaf. By identifying children destined to lose their sight, parents and doctors can help them learn to communicate and prepare them for blindness. Some of these children will be appropriate candidates to receive a cochlear implant. Cochlear implants are small electronic devices that enable individuals who are deaf or have severe hearing loss to detect sound. This research will now enable doctors to provide important quality of life improvements for children with Usher syndrome.

Read more about the research of NIDCD scientists Dr. Thomas Friedman and Dr. Andrew Griffith.

Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, Desnick RJ, Willner JP, Avraham KB, Ostrer H, Oddoux C, Griffith AJ, Friedman TB. A Mutation of PCDH15 among Ashkenazi Jews with the Type 1 Usher Syndrome. N Eng J Med 348:1664-1670,2003.

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