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Genetics Home Reference: your guide to understanding genetic conditions
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DFNB59

Reviewed November 2006

What is the official name of the DFNB59 gene?

The official name of this gene is “deafness, autosomal recessive 59.”

DFNB59 is the gene's official symbol. The DFNB59 gene is also known by other names, listed below.

What is the normal function of the DFNB59 gene?

The DFNB59 gene provides instructions for making a protein called pejvakin. This protein is present in the nerves leading from the inner ear to the brain (auditory nerves). It is also found in the part of the brain that is connected to the spinal cord (the brainstem). Although the exact function of pejvakin is uncertain, it appears to be essential for normal hearing. Hearing requires the conversion of sound waves to nerve impulses that are transmitted via the auditory nerves to the brain. Researchers believe that pejvakin may play a role in the transmission of nerve impulses that register sound.

How are changes in the DFNB59 gene related to health conditions?

nonsyndromic deafness - caused by mutations in the DFNB59 gene

Researchers have identified at least two DFNB59 mutations that cause a form of nonsyndromic deafness (hearing loss without related signs and symptoms affecting other parts of the body). People with these mutations have a type of hearing loss called auditory neuropathy, which occurs when sound is not transmitted properly from the inner ear to the brain.

The DFNB59 mutations replace one of the protein building blocks (amino acids) used to make pejvakin with an incorrect amino acid. It is unclear how these mutations lead to hearing loss. Research suggests that an altered pejvakin protein prevents the normal transmission of nerve impulses from the inner ear to the brain.

Where is the DFNB59 gene located?

Cytogenetic Location: 2q31.2

Molecular Location on chromosome 2: base pairs 179,316,162 to 179,326,112

The DFNB59 gene is located on the long (q) arm of chromosome 2 at position 31.2.

The DFNB59 gene is located on the long (q) arm of chromosome 2 at position 31.2.

More precisely, the DFNB59 gene is located from base pair 179,316,162 to base pair 179,326,112 on chromosome 2.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about DFNB59?

You and your healthcare professional may find the following resources about DFNB59 helpful.

  • Educational resources - Information pages

    • Neuroscience (second edition, 2001): Hair Cells and the Mechanoelectrical Transduction of Sound Waves (http://www.ncbi.nlm.nih.gov/books/NBK10867/)
    • Neuroscience (second edition, 2001) How Information from the Cochlea Reaches Targets in the Brainstem (http://www.ncbi.nlm.nih.gov/books/NBK10945/)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for DFNB59 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=494513%5Bgeneid%5D)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((DFNB59%5BTIAB%5D)%20OR%20(deafness,%20autosomal%20recessive%2059%5BTIAB%5D))%20OR%20((pejvakin%5BTIAB%5D)%20OR%20(PJVK%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/610219)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_DFNB59.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/494513)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=494513)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=29502)

What other names do people use for the DFNB59 gene or gene products?

  • pejvakin
  • PJVK
  • PJVK_HUMAN

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding DFNB59?

acids ; amino acid ; auditory ; autosomal ; autosomal recessive ; gene ; neuropathy ; protein ; recessive

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Delmaghani S, del Castillo FJ, 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. Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. Nat Genet. 2006 Jul;38(7):770-8. Epub 2006 Jun 25. (http://www.ncbi.nlm.nih.gov/pubmed/16804542?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/494513)
  • OMIM: DFNB59 GENE (http://omim.org/entry/610219)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: November 2006
Published: May 20, 2013