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Genetics Home Reference: your guide to understanding genetic conditions
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DFNA5

Reviewed November 2006

What is the official name of the DFNA5 gene?

The official name of this gene is “deafness, autosomal dominant 5.”

DFNA5 is the gene's official symbol. The DFNA5 gene is also known by other names, listed below.

What is the normal function of the DFNA5 gene?

The DFNA5 gene provides instructions for producing the DFNA5 protein, which appears to be important for normal hearing. Researchers believe that this protein plays a role in the development and maintenance of the cochlea, a snail-shaped structure in the inner ear that converts sound waves into nerve impulses. The specific function of this protein is not known, however.

How are changes in the DFNA5 gene related to health conditions?

nonsyndromic deafness - caused by mutations in the DFNA5 gene

At least three mutations in the DFNA5 gene have been identified in a small number of families with nonsyndromic deafness (hearing loss without related signs and symptoms affecting other parts of the body). These mutations cause an abnormally shortened version of the DFNA5 protein to be made. Families affected by mutations in this gene experience progressive hearing loss that resembles age-related hearing loss (presbyacusis). Generally, hearing loss begins at an earlier age in people with DFNA5 mutations compared to people without a DFNA5 mutation.

Where is the DFNA5 gene located?

Cytogenetic Location: 7p15

Molecular Location on chromosome 7: base pairs 24,698,354 to 24,758,019

The DFNA5 gene is located on the short (p) arm of chromosome 7 at position 15.

The DFNA5 gene is located on the short (p) arm of chromosome 7 at position 15.

More precisely, the DFNA5 gene is located from base pair 24,698,354 to base pair 24,758,019 on chromosome 7.

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 DFNA5?

You and your healthcare professional may find the following resources about DFNA5 helpful.

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

What other names do people use for the DFNA5 gene or gene products?

  • deafness, autosomal dominant 5 protein
  • DFNA5_HUMAN
  • ICERE-1
  • Inversely correlated with estrogen receptor expression 1
  • nonsyndromic hearing impairment protein

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 DFNA5?

age-related hearing loss ; autosomal ; autosomal dominant ; cochlea ; gene ; mutation ; presbyacusis ; protein ; receptor

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

References

  • Bischoff AM, Luijendijk MW, Huygen PL, van Duijnhoven G, De Leenheer EM, Oudesluijs GG, Van Laer L, Cremers FP, Cremers CW, Kremer H. A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation. Audiol Neurootol. 2004 Jan-Feb;9(1):34-46. (http://www.ncbi.nlm.nih.gov/pubmed/14676472?dopt=Abstract)
  • OMIM: DEAFNESS, AUTOSOMAL DOMINANT 5 (http://omim.org/entry/600994)
  • Finsterer J, Fellinger J. Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing. Int J Pediatr Otorhinolaryngol. 2005 May;69(5):621-47. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15850684?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1687)
  • Van Laer L, Huizing EH, Verstreken M, van Zuijlen D, Wauters JG, Bossuyt PJ, Van de Heyning P, McGuirt WT, Smith RJ, Willems PJ, Legan PK, Richardson GP, Van Camp G. Nonsyndromic hearing impairment is associated with a mutation in DFNA5. Nat Genet. 1998 Oct;20(2):194-7. (http://www.ncbi.nlm.nih.gov/pubmed/9771715?dopt=Abstract)
  • Van Laer L, Vrijens K, Thys S, Van Tendeloo VF, Smith RJ, Van Bockstaele DR, Timmermans JP, Van Camp G. DFNA5: hearing impairment exon instead of hearing impairment gene? J Med Genet. 2004 Jun;41(6):401-6. (http://www.ncbi.nlm.nih.gov/pubmed/15173223?dopt=Abstract)
  • Yu C, Meng X, Zhang S, Zhao G, Hu L, Kong X. A 3-nucleotide deletion in the polypyrimidine tract of intron 7 of the DFNA5 gene causes nonsyndromic hearing impairment in a Chinese family. Genomics. 2003 Nov;82(5):575-9. (http://www.ncbi.nlm.nih.gov/pubmed/14559215?dopt=Abstract)

 

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: December 22, 2014