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Association Between X-Linked Mixed Deafness and Mutations in the POU Domain Gene POU3F4
Open accessAbstract
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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Cites
Cloning of a gene that is rearranged in patients with choroideraemia
Cremers, F. P. M., van de Pol, D. J. R., van Kerkhoff, L. P. M., Wieringa, B., & Ropers, H.-H. (1990) · Nature · doi:10.1038/347674a0 · Cited by 333
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A promoter-level mammalian expression atlas
The FANTOM Consortium and the RIKEN PMI and CLST (DGT) (2014) · Nature · doi:10.1038/nature13182 · Cited by 1,982
Transcriptional Regulatory Elements in the Human Genome
Maston, G. A., Evans, S. K., & Green, M. R. (2006) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.7.080505.115623 · Cited by 937
Nickerson, D. (1997) · Nucleic Acids Research · doi:10.1093/nar/25.14.2745 · Cited by 931
Essential role of POU–domain factor Brn-3c in auditory and vestibular hair cell development
Xiang, M., Gan, L., Li, D., Chen, Z.-Y., Zhou, L., O’Malley, B. W., Klein, W., & Nathans, J. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.17.9445 · Cited by 334
Homeobox Genes in Embryogenesis and Pathogenesis
Mark, M., Rijli, F. M., & Chambon, P. (1997) · Pediatric Research · doi:10.1203/00006450-199710000-00001 · Cited by 318
Metadata
- Authors
- de Kok, Y. J. M., van der Maarel, S. M., Bitner-Glindzicz, M., Huber, I., Monaco, A. P., Malcolm, S., Pembrey, M. E., Ropers, H.-H., & Cremers, F. P. M.
- Venue
- Science
- Published
- 1995-02-03
- Volume
- 267
- Issue
- 5198
- Pages
- 685-688
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2049011837
- Cited by
- 445
- References
- 1
- FWCI
- 18.76
- Type
- journal article
- Language
- en
- Open access
- green
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- de Kok, Y. J. M., van der Maarel, S. M., Bitner-Glindzicz, M., Huber, I., Monaco, A. P., Malcolm, S., Pembrey, M. E., Ropers, H.-H., & Cremers, F. P. M. (1995). Association Between X-Linked Mixed Deafness and Mutations in the POU Domain Gene POU3F4. Science. https://doi.org/10.1126/science.7839145
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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