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={E. Douglas Lynch and Ming K. Lee and Jannay Morrow and Piri L. Welcsh and Pedro E. Le{\'o}n and Megan C. King},
  journal={Science},
  year={1997},
  volume={278 5341},
  pages={
          1315-8
        }
}
  • E. Douglas Lynch, Ming K. Lee, +3 authors Megan C. King
  • Published 1997
  • Biology, Medicine
  • Science
  • 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… CONTINUE READING

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