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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

DFNB59  -  deafness, autosomal recessive 59

Homo sapiens

Synonyms: Autosomal recessive deafness type 59 protein, PJVK, Pejvakin, pejvakin
 
 
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High impact information on DFNB59

  • Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy [1].
  • Here we report on DFNB59, a newly identified gene on chromosome 2q31.1-q31.3 mutated in four families segregating autosomal recessive auditory neuropathy [1].
  • Unlike previously described sensorineural deafness genes, all of which underlie cochlear cell pathologies, DFNB59 is the first human gene implicated in nonsyndromic deafness due to a neuronal defect [1].
 

Biological context of DFNB59

References

  1. Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. Delmaghani, S., del Castillo, F.J., Michel, V., Leibovici, M., Aghaie, A., Ron, U., Van Laer, L., Ben-Tal, N., Van Camp, G., Weil, D., Langa, F., Lathrop, M., Avan, P., Petit, C. Nat. Genet. (2006) [Pubmed]
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