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Science 3 February 1995:
Vol. 267. no. 5198, pp. 685 - 688
DOI: 10.1126/science.7839145
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Articles

Science, Vol 267, Issue 5198, 685-688
Copyright © 1995 by American Association for the Advancement of Science

articles

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4

YJ de Kok, SM van der Maarel, M Bitner-Glindzicz, I Huber, AP Monaco, S Malcolm, ME Pembrey, HH Ropers, and FP Cremers

Department of Human Genetics, University Hospital Nijmegen, Netherlands.

Deafness with fixation of the stapes (DFN3) is the most frequent X-linked form of hearing impairment. The underlying gene has been localized to a 500-kilobase segment of the Xq21 band. Here, it is reported that a candidate gene for this disorder, Brain 4 (POU3F4), which encodes a transcription factor with a POU domain, maps to the same interval. In five unrelated patients with DFN3 but not in 50 normal controls, small mutations were found that result in truncation of the predicted protein or in nonconservative amino acid substitutions. These findings indicate that POU3F4 mutations are a molecular cause of DFN3.


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The sex-linked fidget mutation abolishes Brn4/Pou3f4 gene expression in the embryonic inner ear.
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X-inactivation by chromosomal pairing events.
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Altered Cochlear Fibrocytes in a Mouse Model of DFN3 Nonsyndromic Deafness.
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Targeted Mutagenesis of the POU-Domain Gene Brn4/Pou3f4 Causes Developmental Defects in the Inner Ear.
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Genomics and Hearing Impairment.
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Mutation in Transcription Factor POU4F3 Associated with Inherited Progressive Hearing Loss in Humans.
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Requirement for Brn-3c in maturation and survival, but not in fate determination of inner ear hair cells.
M Xiang, W. Gao, T Hasson, and J. Shin (1998)
Development 125, 3935-3946
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Nonsyndromic Deafness DFNA1 Associated with Mutation of a Human Homolog of the Drosophila Gene diaphanous.
E. D. Lynch, M. K. Lee, J. E. Morrow, P. L. Welcsh, P. E. León, and M. King (1997)
Science 278, 1315-1318
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Essential role of POU-domain factor Brn-3c in auditory and vestibular hair cell development.
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Role of the Brn-3 Family of POU-domain Genes in the Development of the Auditory /Vestibular, Somatosensory, and Visual Systems.
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Similar DNA recognition properties of alternatively spliced Drosophila POU factors.
E. E. Turner (1996)
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Transgenic Insertional Mutagenesis: Applications to Inner-Ear Genetics.
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Transcription-Factor Mutations and Disease.
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Development and survival of the endocrine hypothalamus and posterior pituitary gland requires the neuronal POU domain factor Brn-2..
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Fdp, a New Fibrocyte-derived Protein Related to MIA/CD-RAP, Has an in Vitro Effect on the Early Differentiation of the Inner Ear Mesenchyme.
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