STRC Gene

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1		Rui Liu	+ 459 word(s)	459	2020-12-15 08:11:28

This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/strc

Stereocilin: The STRC gene provides instructions for making a protein called stereocilin.

genes

1. Normal Function

The STRC gene provides instructions for making a protein called stereocilin. This protein is found in the inner ear and appears to be involved in hearing.

Stereocilin is associated with hairlike structures called stereocilia, which project from specialized cells called hair cells in the inner ear. Specifically, stereocilin helps to maintain the structure of stereocilia by linking their tips to one another. Stereocilia bend in response to sound waves, triggering a series of reactions within hair cells that generate a nerve impulse. Such nerve impulses are transmitted via the auditory nerve to the brain, where they are interpreted as sound.

2. Health Conditions Related to Genetic Changes

2.1. Nonsyndromic hearing loss

Researchers have identified a few STRC gene mutations in individuals with nonsyndromic hearing loss, which is loss of hearing that is not associated with other signs and symptoms. Mutations 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 mutations 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 mutation deletes a piece of chromosome 15 that includes the entire STRC gene. Mutations 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 reacting normally to sound waves. As a result, hair cells cannot convert sound into electrical impulses, which leads to hearing loss in people with DFNB16.

2.2. Sensorineural deafness and male infertility

Sensorineural deafness and male infertility 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 an inability to father children.

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, affected individuals are missing both copies of the STRC gene, and no stereocilin protein is produced. A lack of stereocilin likely interferes with the normal function of stereocilia and impairs how these structures respond to sound waves, resulting in hearing loss. The loss of another gene, CATSPER2, in the same region of chromosome 15 is responsible for infertility in affected males.

3. Other Names for This Gene

deafness, autosomal recessive 16
DFNB16
STRC_HUMAN

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 majorcontributor to pediatric bilateral sensorineural hearing impairment. Am J MedGenet A. 2012 Feb;158A(2):298-308. doi: 10.1002/ajmg.a.34391.
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 diagnostictesting for stereocilin: an approach for analyzing medically important genes withhigh homology. J Mol Diagn. 2014 Nov;16(6):639-47. doi:10.1016/j.jmoldx.2014.06.003.
Verpy E, Masmoudi S, Zwaenepoel I, Leibovici M, Hutchin TP, Del Castillo I,Nouaille S, Blanchard S, Lainé S, Popot JL, Moreno F, Mueller RF, Petit C.Mutations in a new gene encoding a protein of the hair bundle cause non-syndromicdeafness at the DFNB16 locus. Nat Genet. 2001 Nov;29(3):345-9.
Vona B, Hofrichter MA, Neuner C, Schröder J, Gehrig A, Hennermann JB, Kraus F,Shehata-Dieler W, Klopocki E, Nanda I, Haaf T. DFNB16 is a frequent cause ofcongenital hearing impairment: implementation of STRC mutation analysis inroutine diagnostics. Clin Genet. 2015;87(1):49-55. doi: 10.1111/cge.12332.
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 maleinfertility: a contiguous gene deletion syndrome. J Med Genet. 2007Apr;44(4):233-40.Lohr, Naomi J [added].

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Subjects: Genetics & Heredity

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Rui Liu

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Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

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