Nonsyndromic Deafness DFNA1 Associated with Mutation of a Human Homolog of the Drosophila Gene diaphanous
10.1126/science.278.5341.1315
Crossref journal-article
American Association for the Advancement of Science (AAAS)
Science (221)
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.

Bibliography

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, 278(5341), 1315–1318.

Authors 6
  1. Eric D. Lynch (first)
  2. Ming K. Lee (additional)
  3. Jan E. Morrow (additional)
  4. Piri L. Welcsh (additional)
  5. Pedro E. León (additional)
  6. Mary-Claire King (additional)
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Dates
Type When
Created 23 years, 1 month ago (July 27, 2002, 5:50 a.m.)
Deposited 1 year, 7 months ago (Jan. 12, 2024, 11:32 p.m.)
Indexed 1 month, 3 weeks ago (July 8, 2025, 7:30 a.m.)
Issued 27 years, 9 months ago (Nov. 14, 1997)
Published 27 years, 9 months ago (Nov. 14, 1997)
Published Print 27 years, 9 months ago (Nov. 14, 1997)
Funders 0

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@article{Lynch_1997, title={Nonsyndromic Deafness DFNA1 Associated with Mutation of a Human Homolog of the Drosophila Gene diaphanous}, volume={278}, ISSN={1095-9203}, url={http://dx.doi.org/10.1126/science.278.5341.1315}, DOI={10.1126/science.278.5341.1315}, number={5341}, journal={Science}, publisher={American Association for the Advancement of Science (AAAS)}, author={Lynch, Eric D. and Lee, Ming K. and Morrow, Jan E. and Welcsh, Piri L. and León, Pedro E. and King, Mary-Claire}, year={1997}, month=nov, pages={1315–1318} }