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Normal Function
The STRC gene provides instructions for making a protein called stereocilin. This protein is found in the inner ear and is involved in hearing.
Stereocilin is associated with hairlike structures called stereocilia, which project from specialized cells called hair cells in the inner ear. Stereocilin links the tips of neighboring stereocilia to one another. Stereocilia must be physically connected to carry out certain auditory functions, such as making quiet sounds louder and detecting sound frequency.
Health Conditions Related to Genetic Changes
Nonsyndromic hearing loss
Researchers have identified STRC gene variants (also called mutations) in individuals with nonsyndromic hearing loss, which is loss of hearing that is not associated with other signs and symptoms. Variants in this gene cause a form of nonsyndromic hearing loss called DFNB16. This form of hearing loss can either be present before a child learns to speak (prelingual) or begin after a child learns to speak (postlingual). The hearing loss ranges from mild to profound and particularly affects the ability to hear high-frequency sounds.
The STRC gene variants that cause nonsyndromic hearing loss add a small amount of DNA to the STRC gene or delete DNA from the gene. In many cases, the variant deletes a piece of chromosome 15 that includes the entire STRC gene. Variants in this gene lead to the production of a nonfunctional version of stereocilin or prevent any of this protein from being produced. A loss of functional stereocilin likely alters the structure of stereocilia, preventing them from connecting to one another. As a result, certain auditory functions are impaired, which leads to hearing loss in people with DFNB16.
More About This Health ConditionDeafness-infertility syndrome
Deafness-infertility syndrome is a condition caused by a deletion of genetic material on the long (q) arm of chromosome 15. This condition is characterized by the combination of hearing loss and difficulty conceiving children (a condition called infertility).
The chromosomal region that is typically deleted contains multiple genes, including the STRC gene. People with this condition have the deletion in both copies of chromosome 15 in each cell. As a result of the deletion, no stereocilin protein is produced. A lack of stereocilin likely interferes with the normal function of stereocilia and impairs certain auditory functions, resulting in hearing loss in people with deafness-infertility syndrome.
The loss of another gene, CATSPER2, in the same region of chromosome 15 results in the impaired movement of sperm. This causes the infertility seen in people with deafness-infertility syndrome. Researchers are working to determine how the loss of additional genes in the deleted region affects people with deafness-infertility syndrome.
More About This Health ConditionOther Names for This Gene
- deafness, autosomal recessive 16
- DFNB16
- STRC_HUMAN
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Francey LJ, Conlin LK, Kadesch HE, Clark D, Berrodin D, Sun Y, Glessner J, Hakonarson H, Jalas C, Landau C, Spinner NB, Kenna M, Sagi M, Rehm HL, Krantz ID. Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment. Am J Med Genet A. 2012 Feb;158A(2):298-308. doi: 10.1002/ajmg.a.34391. Epub 2011 Dec 6. Citation on PubMed or Free article on PubMed Central
- Mandelker D, Amr SS, Pugh T, Gowrisankar S, Shakhbatyan R, Duffy E, Bowser M, Harrison B, Lafferty K, Mahanta L, Rehm HL, Funke BH. Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology. J Mol Diagn. 2014 Nov;16(6):639-47. doi: 10.1016/j.jmoldx.2014.06.003. Epub 2014 Aug 23. Citation on PubMed
- Nishio SY, Usami SI. Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients. Sci Rep. 2022 Jan 12;12(1):634. doi: 10.1038/s41598-021-04688-5. Citation on PubMed
- Redfield S, Shearer AE. STRC-Related Autosomal Recessive Hearing Loss. 2023 Dec 14. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from http://www.ncbi.nlm.nih.gov/books/NBK598310/ Citation on PubMed
- Verpy E, Masmoudi S, Zwaenepoel I, Leibovici M, Hutchin TP, Del Castillo I, Nouaille S, Blanchard S, Laine S, Popot JL, Moreno F, Mueller RF, Petit C. Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus. Nat Genet. 2001 Nov;29(3):345-9. doi: 10.1038/ng726. Citation on PubMed
- Vona B, Hofrichter MA, Neuner C, Schroder J, Gehrig A, Hennermann JB, Kraus F, Shehata-Dieler W, Klopocki E, Nanda I, Haaf T. DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics. Clin Genet. 2015;87(1):49-55. doi: 10.1111/cge.12332. Epub 2014 Jan 21. Citation on PubMed or Free article on PubMed Central
- Zhang Y, Malekpour M, Al-Madani N, Kahrizi K, Zanganeh M, Lohr NJ, Mohseni M, Mojahedi F, Daneshi A, Najmabadi H, Smith RJ. Sensorineural deafness and male infertility: a contiguous gene deletion syndrome. J Med Genet. 2007 Apr;44(4):233-40. doi: 10.1136/jmg.2006.045765. Epub 2006 Nov 10. Erratum In: J Med Genet. 2007 Aug;44(8):544. Lohr, Naomi J [added]. Citation on PubMed or Free article on PubMed Central
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