Localization of Usher syndrome type II to chromosome 1q

William J. Kimberling, Michael Weston, Claes Möller, Sandra L H Davenport, Yin Y. Shugart, Ira A. Priluck, Alessandro Martini, Massimo Milani, Richard J. Smith

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Abstract

Usher syndrome is characterized by congenital hearing loss, progressive visual impairment due to retinitis pigmentosa, and variable vestibular problems. The two subtypes of Usher syndrome, types I and II, can be distinguished by the degree of hearing loss and by the presence or absence of vestibular dysfunction. Type I is characterized by a profound hearing loss and totally absent vestibular responses, while type II has a milder hearing loss and normal vestibular function. Fifty-five members of eight type II Usher syndrome families were typed for three DNA markers in the distal region of chromosome 1q: D1S65 (pEKH7.4), REN (pHRnES1.9), and D1S81 (pTHH33). Statistically significant linkage was observed for Usher syndrome type II with a maximum multipoint lod score of 6.37 at the position of the marker THH33, thus localizing the Usher type II (USH2) gene to 1q. Nine families with type I Usher syndrome failed to show linkage to the same three markers. The statistical test for heterogeneity of linkage between Usher syndrome types I and II was highly significant, thus demonstrating that they are due to mutations at different genetic loci.

Original languageEnglish
Pages (from-to)245-249
Number of pages5
JournalGenomics
Volume7
Issue number2
DOIs
Publication statusPublished - 1990

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All Science Journal Classification (ASJC) codes

  • Genetics

Cite this

Kimberling, W. J., Weston, M., Möller, C., Davenport, S. L. H., Shugart, Y. Y., Priluck, I. A., ... Smith, R. J. (1990). Localization of Usher syndrome type II to chromosome 1q. Genomics, 7(2), 245-249. https://doi.org/10.1016/0888-7543(90)90546-7