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Science 14 November 1997:
Vol. 278. no. 5341, pp. 1315 - 1318
DOI: 10.1126/science.278.5341.1315
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Reports

Nonsyndromic Deafness DFNA1 Associated with Mutation of a Human Homolog of the Drosophila Gene diaphanous

Eric D. Lynch, * Ming K. Lee, Jan E. Morrow, Piri L. Welcsh, Pedro E. León, Mary-Claire King

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.

E. D. Lynch, M. K. Lee, J. E. Morrow, P. L. Welcsh, M.-C. King, Departments of Medicine and Genetics, University of Washington, Seattle, WA 98195, USA.
P. E. León, Center for Research in Cellular and Molecular Biology and School of Medicine, University of Costa Rica, San Jose, Costa Rica.
*   To whom correspondence should be addressed. E-mail: eric{at}lynch.com or genemap{at}u.washington.edu

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