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Letters to Nature

Nature 355, 637-638 (13 February 1992) | doi:10.1038/355637a0; Received 20 December 1991; Accepted 21 January 1992

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

Clinton T. Baldwin*, Christopher F. Hoth*, Jean A. Amos*, Elias O. da-Silva‡ & Aubrey Milunsky*§†

  1. *, Center for Human Genetics and †Department of Pediatrics, Boston University School of Medicine, 80 East Concord Street, Boston, Massachusetts 02118, USA
  2. ‡Institute Materno-lnfantil de Pernambuco and Department of Genetics, Federal University of Puernambuco, Recife, PE, Brazil.
  3. §To whom correspondence should be addressed.
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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.