Abstract
HERE we report the identification and characterization of a gene defect causing Waardenburg's syndrome with hearing loss in a large Brazilian family. This demonstrates a mutation causing Waardenburg's syndrome as well as a mutation causing a form of congenital deafness. The mutation was found in the HuP2 gene, a member of the paired domain family of proteins that bind DNA and regulate gene expression1. The mutation occurred in 100% of the cases with the disease in this family and was absent in a random sample of 50 unrelated control subjects. Identification of the Waardenburg's syndrome gene and future characterization of its gene product is likely to increase our understanding of the pathogenesis of this disorder and may allow prevention of deafness of this type.
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References
Burri, M., Tromyourkis, Y., Bopp, D., Frigerio, G. & Noll, M. EMBO J. 8, 1183–1190 (1989).
de-Silva, E. O. Am. J. med. Genet. 40, 65–74 (1991).
Waardenburg, P. J. Am. J. hum. Genet. 3, 195–253 (1951).
Hageman, M. J. & Delleman, J. W. Am. J. hum. Genet. 29, 468–485 (1977).
Ishikiriyama, S. et al. Am. J. med. Genet. 33, 505–507 (1989).
Foy, C., Newton, V., Wellesley, D., Harris, R. & Read, A. Am. J. hum. Genet. 46, 1017–1023 (1990).
Asher, J. H. & Friedman, T. B. J. med. Genet. 27, 618–626 (1990).
Bopp, D., Jamet, E., Baumgartner, S., Burri, M. & Noll, M. EMBO J. 8, 3447–3457 (1989).
Schleif, R. Science 241, 1182–1187 (1988).
Hanes, S. & Brent, R. Science 251, 426–430 (1991).
Epstein, D., Vekemans, M. & Gross, P. Cell 67, 1–20 (1991).
White, M. B. et al. Nature 344, 665–667 (1990).
Goulding, M., Chalepakis, G., Deutsch, U., Erselius, J. & Gruss, P. EMBO J. 10, 1135–1147 (1991).
Balling, R., Deutsch, U. & Gruss, P. Cell 55, 531–555 (1988).
Chalepakis, G., Fritsch, R. & Fickenscher, H. Cell 66, 873–884 (1991).
Prockop, D. J., Baldwin, C. T. & Constantinou, C. D. Adv. hum. Genet. 19, 105–132 (1990).
Tsui, L. Curr. Opinions Genet. Dev. 1, 4–10 (1991).
White, R. & O'Connell, P. Curr. Opinions Genet. Dev. 1, 15–19 (1991).
Bosher, S. K. & Hallpike, C. S. J. Laryng. 80, 222–235 (1966).
Saiki, R. K. et al. Science 239, 487–491 (1988).
Ganguly, A. et al. J. biol. Chem. 266, 12035–12040 (1991).
Sanger, F., Nicklen, S. & Coulson, A. R. Proc. natn. Acad. Sci. U.S.A. 74, 5463–5467 (1977).
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Baldwin, C., Hoth, C., Amos, J. et al. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature 355, 637–638 (1992). https://doi.org/10.1038/355637a0
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DOI: https://doi.org/10.1038/355637a0
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