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 journalArticle

33 Citations (Scopus)

Abstract

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
JournalLaryngoscope
Volume99
Issue number1
StatePublished - Jan 1989

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Usher Syndromes
Genes
Genetic Heterogeneity
Genome

ASJC Scopus subject areas

  • Otorhinolaryngology

Cite this

Kimberling, W. J., Möller, C. G., Davenport, S. L. H., Lund, G., Grissom, T. J., Priluck, I., ... Brookhouser, P. E. (1989). Usher syndrome: Clinical findings and gene localization studies. Laryngoscope, 99(1), 66-72.

Usher syndrome : Clinical findings and gene localization studies. / Kimberling, William J.; Möller, Claes G.; Davenport, Sandra L.H.; Lund, Gunnar; Grissom, Timothy J.; Priluck, Ira; White, Valorie; Weston, Michael D.; Biscone-Halterman, Karen; Brookhouser, Patrick E.

In: Laryngoscope, Vol. 99, No. 1, 01.1989, p. 66-72.

Research output: Contribution to journalArticle

Kimberling, WJ, Möller, CG, Davenport, SLH, Lund, G, Grissom, TJ, Priluck, I, White, V, Weston, MD, Biscone-Halterman, K & Brookhouser, PE 1989, 'Usher syndrome: Clinical findings and gene localization studies', Laryngoscope, vol. 99, no. 1, pp. 66-72.
Kimberling WJ, Möller CG, Davenport SLH, Lund G, Grissom TJ, Priluck I et al. Usher syndrome: Clinical findings and gene localization studies. Laryngoscope. 1989 Jan;99(1):66-72.
Kimberling, William J. ; Möller, Claes G. ; Davenport, Sandra L.H. ; Lund, Gunnar ; Grissom, Timothy J. ; Priluck, Ira ; White, Valorie ; Weston, Michael D. ; Biscone-Halterman, Karen ; Brookhouser, Patrick E. / Usher syndrome : Clinical findings and gene localization studies. In: Laryngoscope. 1989 ; Vol. 99, No. 1. pp. 66-72.
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