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

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Science  14 Nov 1997:
Vol. 278, Issue 5341, pp. 1315-1318
DOI: 10.1126/science.278.5341.1315

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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 namedDFNA1. Deafness in the family is associated with a protein-truncating mutation in a human homolog of theDrosophila 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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