Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous.

@article{Lynch1997NonsyndromicDD,
  title={Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous.},
  author={Eric D. Lynch and M K Lee and J E Morrow and Piri L. Welcsh and P E Le{\'o}n and Mary-Claire King},
  journal={Science},
  year={1997},
  volume={278 5341},
  pages={
          1315-8
        }
}
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… 
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