Reviewed November 2006
What is the official name of the DFNB31 gene?
The official name of this gene is “deafness, autosomal recessive 31.”
DFNB31 is the gene's official symbol. The DFNB31 gene is also known by other names, listed below.
What is the normal function of the DFNB31 gene?
The DFNB31 gene provides instructions for making a protein called whirlin. Whirlin belongs to a group of proteins that have specialized regions called PDZ domains. PDZ domains are sites of protein-protein interactions that are important for normal cell functions.
Whirlin is made in several types of cells, but it has been best studied in cells from the inner ear and the light-sensitive tissue at the back of the eye (the retina). In the inner ear, it appears that whirlin is needed for normal hearing. Hearing requires the conversion of sound waves to nerve impulses that are transmitted via the auditory nerve to the brain. Researchers suggest that whirlin plays an important role in the development and maintenance of stereocilia, the hairlike structures that project from specialized cells called hair cells. Stereocilia line the inner ear and bend in response to sound waves. This bending motion is critical for converting sound waves to nerve impulses. In the retina, whirlin's function is not well understood. Research findings indicate that it may be important in the development and function of photoreceptor cells, which detect light and color.
How are changes in the DFNB31 gene related to health conditions?
- nonsyndromic deafness - caused by mutations in the DFNB31 gene
Researchers have identified two mutations in the DFNB31 gene that cause a form of nonsyndromic deafness (hearing loss without related signs and symptoms affecting other parts of the body). These mutations introduce a premature stop signal in the instructions for making whirlin. As a result, no protein is produced, or an abnormally small protein that is missing a PDZ domain is made. The abnormal whirlin protein or the absence of whirlin probably impairs the function of stereocilia, leading to hearing loss.
Where is the DFNB31 gene located?
Cytogenetic Location: 9q32
Molecular Location on chromosome 9: base pairs 117,164,359 to 117,267,735
The DFNB31 gene is located on the long (q) arm of chromosome 9 at position 32.
More precisely, the DFNB31 gene is located from base pair 117,164,359 to base pair 117,267,735 on chromosome 9.
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 DFNB31?
You and your healthcare professional may find the following resources about DFNB31 helpful.
Educational resources - Information pages
- Biochemistry (5th edition, 2002): Hearing Depends on the Speedy Detection of Mechanical Stimuli (http://www.ncbi.nlm.nih.gov/books/NBK22542/)
- Harvard Medical School Center for Hereditary Deafness (http://hearing.harvard.edu/)
- Neuroscience (2nd edition, 2001): Hair Cells and the Mechanoelectrical Transduction of Sound Waves (http://www.ncbi.nlm.nih.gov/books/NBK10867/)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1434/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for DFNB31 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=25861%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=((DFNB31%5BTIAB%5D)%20OR%20(deafness,%20autosomal%20recessive%2031%5BTIAB%5D))%20OR%20((CASK-interacting%20protein%20CIP98%5BTIAB%5D)%20OR%20(WHRN%5BTIAB%5D)%20OR%20(KIAA1526%5BTIAB%5D)%20OR%20(RP11-9M16.1%5BTIAB%5D)%20OR%20(DKFZP434N014%5BTIAB%5D)%20OR%20(1110035G07Rik%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/607928)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_DFNB31.html)
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/25861)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=25861)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=16361)
- The Hereditary Hearing Loss Homepage (http://hereditaryhearingloss.org/)
What other names do people use for the DFNB31 gene or gene products?
- cask-interacting protein, 98-KD
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 DFNB31?
auditory nerve ;
autosomal recessive ;
hair cells ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/25861)
- Mburu P, Kikkawa Y, Townsend S, Romero R, Yonekawa H, Brown SD. Whirlin complexes with p55 at the stereocilia tip during hair cell development. Proc Natl Acad Sci U S A. 2006 Jul 18;103(29):10973-8. Epub 2006 Jul 7. (http://www.ncbi.nlm.nih.gov/pubmed/16829577?dopt=Abstract)
- Mburu P, Mustapha M, Varela A, Weil D, El-Amraoui A, Holme RH, Rump A, Hardisty RE, Blanchard S, Coimbra RS, Perfettini I, Parkinson N, Mallon AM, Glenister P, Rogers MJ, Paige AJ, Moir L, Clay J, Rosenthal A, Liu XZ, Blanco G, Steel KP, Petit C, Brown SD. Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Nat Genet. 2003 Aug;34(4):421-8. (http://www.ncbi.nlm.nih.gov/pubmed/12833159?dopt=Abstract)
- OMIM: WHIRLIN (http://omim.org/entry/607928)
- Tlili A, Charfedine I, Lahmar I, Benzina Z, Mohamed BA, Weil D, Idriss N, Drira M, Masmoudi S, Ayadi H. Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss. Hum Mutat. 2005 May;25(5):503. (http://www.ncbi.nlm.nih.gov/pubmed/15841483?dopt=Abstract)
- van Wijk E, van der Zwaag B, Peters T, Zimmermann U, Te Brinke H, Kersten FF, Märker T, Aller E, Hoefsloot LH, Cremers CW, Cremers FP, Wolfrum U, Knipper M, Roepman R, Kremer H. The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. Hum Mol Genet. 2006 Mar 1;15(5):751-65. Epub 2006 Jan 24. (http://www.ncbi.nlm.nih.gov/pubmed/16434480?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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.