Mutation in Transcription Factor POU4F3 Associated with Inherited Progressive Hearing Loss in Humans

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Science  20 Mar 1998:
Vol. 279, Issue 5358, pp. 1950-1954
DOI: 10.1126/science.279.5358.1950

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The molecular basis for autosomal dominant progressive nonsyndromic hearing loss in an Israeli Jewish family, Family H, has been determined. Linkage analysis placed this deafness locus,DFNA15, on chromosome 5q31. The human homolog of mousePou4f3, a member of the POU-domain family of transcription factors whose targeted inactivation causes profound deafness in mice, was physically mapped to the 25-centimorgan DFNA15-linked region. An 8–base pair deletion in the POU homeodomain of humanPOU4F3 was identified in Family H. A truncated protein presumably impairs high-affinity binding of this transcription factor in a dominant negative fashion, leading to progressive hearing loss.

  • * These authors contributed equally to this report.

  • To whom correspondence should be addressed. E-mail: karena{at}

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