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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 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.
↵* To whom correspondence should be addressed. E-mail: eric{at}lynch.com or genemap{at}u.washington.edu
