Early diagnosis of Usher syndrome type 1 made possible by new findings

Bethesda, Maryland - Deafness in both ears and progressive loss of vision due to retinitis pigmentosa are the indicators of Usher syndrome, a genetic dual deficit disorder. There are three clinical subtypes of Usher syndrome, the most severe of which is Usher type 1 (USH1). This syndrome involves deafness at birth, progressive blindness and balance problems. In 1861, a physician working in Berlin described the clinical features of Usher syndrome in Jewish individuals. Now, 140 years later, there is an opportunity to offer help to those individuals who inherit this syndrome as reported in the April 24, 2003 New England Journal of Medicine.

A significant collaboration across four institutions was led by scientists at the National Institute on Deafness and Other Communication Disorders at the National Institutes of Health including Thomas B. Friedman, Ph.D., Chief, Laboratory of Molecular Genetics, Tamar Ben-Yosef, Ph.D., the key scientist on this project, and Andrew J. Griffith, M.D., Ph.D. Additional collaborators on this project were Seth Ness, M.D., Ph.D., Mount Sinai School of Medicine, Karen Avraham, Ph.D. at the Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, and Harry Ostrer, M.D., and Carole Oddoux, Ph.D. at the Department of Molecular Genetics, NYU Medical Center.

Dr. Ben-Yosef identified a mutation, R245X, of an Usher syndrome type 1 gene, PCDH15, which appears to account for a large proportion of USH1 in the Ashkenazi Jewish population today. Ashkenazi describes those Jewish people who came from eastern Europe.

In earlier studies in Dr. Friedman's laboratory, a founder mutation, 167delT, was identified in the GJB2 gene, which is carried by 4% of Ashkenazi Jewish individuals. It is one of the major causes of autosomal-recessive, nonsyndromic hearing loss in the same population. Dr. Friedman hypothesized that at least one USH1 mutation, which arose in an ancestral populat

Contact: Marin P. Allen, Ph.D.
NIH/National Institute on Deafness and Other Communication Disorders

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