Usher syndrome: Clinical findings and gene localization studies

William J. Kimberling, Claes G. Möller, Sandra L.H. Davenport, Gunnar Lund, Timothy J. Grissom, Ira Priluck, Valorie White, Michael D. Weston, Karen Biscone-Halterman, Patrick E. Brookhouser

Research output: Contribution to journalArticlepeer-review

37 Scopus citations


The issue of genetic heterogeneity is a critical problem in the localization of the gene(s) for Usher syndrome. Based on the data obtained on families studied to date, the differences between type I and type II Usher syndrome appear quite distinct with regard to auditory and vestibular function. Although the majority of families can be confidently diagnosed as typical type I or type II, clinical investigations revealed four families with findings that did not fit into either of the two more common subtypes. These findings emphasize the critical importance of an in-depth clinical analysis concomitant with the linkage investigation to assure accurate subtyping of Usher syndrome. Based on an analysis of only those families with definite type I or type II Usher syndrome, approximately 17% of the genome can be excluded as a potential site of the gene for type I, and 14% can be excluded as the site for the type II gene. This study will continue until the Usher gene(s) is successfully localized.

Original languageEnglish (US)
Pages (from-to)66-72
Number of pages7
Issue number1
StatePublished - Jan 1989
Externally publishedYes

ASJC Scopus subject areas

  • Otorhinolaryngology


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