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Nonsyndromic Deafness DFNA1 Associated with Mutation of a Human Homolog of the Drosophila Gene diaphanous
Abstract
The gene responsible for autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive hearing loss in a large Costa Rican kindred was previously localized to chromosome 5q31 and named DFNA1 . Deafness in the family is associated with a protein-truncating mutation in a human homolog of the Drosophila gene diaphanous . The truncation is caused by a single nucleotide substitution in a splice donor, leading to a four–base pair insertion in messenger RNA and a frameshift. The diaphanous protein is a profilin ligand and target of Rho that regulates polymerization of actin, the major component of the cytoskeleton of hair cells of the inner ear.
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Citations
Cited by
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Alberts, A. S. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m006205200 · Cited by 329
Metadata
- Authors
- Lynch, E. D., Lee, M. K., Morrow, J. E., Welcsh, P. L., León, P. E., & King, M.-C.
- Venue
- Science
- Published
- 1997-11-14
- Volume
- 278
- Issue
- 5341
- Pages
- 1315-1318
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2004375241
- Cited by
- 418
- References
- 0
- FWCI
- 16.26
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Nonsyndromic Deafness DFNA1 Associated with Mutation of a Human Homolog of the Drosophila Gene diaphanous. https://app.cochat.ai/papers/10.1126/science.278.5341.1315
- The paper
- Lynch, E. D., Lee, M. K., Morrow, J. E., Welcsh, P. L., León, P. E., & King, M.-C. (1997). Nonsyndromic Deafness DFNA1 Associated with Mutation of a Human Homolog of the Drosophila Gene diaphanous. Science. https://doi.org/10.1126/science.278.5341.1315
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