An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
CT Baldwin, CF Hoth, JA Amos, EO da-Silva… - Nature, 1992 - nature.com
CT Baldwin, CF Hoth, JA Amos, EO da-Silva, A Milunsky
Nature, 1992•nature.comHERE 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 …
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 …
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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