Normal Function
The TECTA gene provides instructions for making a protein called alpha-tectorin. This protein is found in the tectorial membrane, which is part of a snail-shaped structure called the cochlea in the inner ear. The cochlea converts sound waves into nerve impulses, which are then transmitted to the brain. This process is critical for normal hearing.
Alpha-tectorin is large protein with multiple regions (called domains) through which it interacts with other proteins. These interactions are critical for the normal formation of the tectorial membrane.
Health Conditions Related to Genetic Changes
Nonsyndromic hearing loss
Researchers have identified at least 40 TECTA gene mutations that can cause nonsyndromic hearing loss, which is loss of hearing that is not associated with other signs and symptoms. Mutations in this gene can cause two forms of nonsyndromic hearing loss: DFNA8/12 and DFNB21.
DFNA8/12 is inherited in an autosomal dominant pattern, which means one mutated copy of the TECTA gene in each cell is sufficient to cause the condition. This form of hearing loss can be present before a child learns to speak (prelingual) or begin after a child learns to speak (postlingual). In some cases the hearing loss is stable, while in others it becomes more severe over time.
The TECTA gene mutations that cause DFNA8/12 change single protein building blocks (amino acids) in alpha-tectorin. The characteristics of the hearing loss depend on the domain in which the mutation occurs. Mutations in one domain tend to affect the ability to hear mid-frequency sounds, while mutations in another generally affect the ability to hear high-frequency sounds. All of these mutations alter the structure of the tectorial membrane and disrupt the conversion of sound to nerve impulses. However, it is unclear why changes in different areas of the alpha-tectorin protein lead to different hearing loss characteristics.
DFNB21 is inherited in an autosomal recessive pattern, which means both copies of the TECTA gene are mutated in each cell. This form of hearing loss is usually severe to profound and is prelingual.
The TECTA gene mutations that cause DFNB21 mutations create a premature stop signal in the instructions for making the alpha-tectorin protein. These mutations lead to the production of a nonfunctional version of alpha-tectorin or prevent cells from making any of this protein. A total loss of alpha-tectorin function alters the structure of the tectorial membrane in such a way that sound cannot be converted to nerve impulses.
More About This Health ConditionOther Names for This Gene
- DFNA12
- DFNA8
- DFNB21
- TECTA_HUMAN
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Balciuniene J, Dahl N, Jalonen P, Verhoeven K, Van Camp G, Borg E, Pettersson U, Jazin EE. Alpha-tectorin involvement in hearing disabilities: one gene--two phenotypes. Hum Genet. 1999 Sep;105(3):211-6. doi: 10.1007/s004390051091. Citation on PubMed
- Hildebrand MS, Morin M, Meyer NC, Mayo F, Modamio-Hoybjor S, Mencia A, Olavarrieta L, Morales-Angulo C, Nishimura CJ, Workman H, DeLuca AP, del Castillo I, Taylor KR, Tompkins B, Goodman CW, Schrauwen I, Wesemael MV, Lachlan K, Shearer AE, Braun TA, Huygen PL, Kremer H, Van Camp G, Moreno F, Casavant TL, Smith RJ, Moreno-Pelayo MA. DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. Hum Mutat. 2011 Jul;32(7):825-34. doi: 10.1002/humu.21512. Epub 2011 Jun 7. Citation on PubMed or Free article on PubMed Central
- Meyer NC, Alasti F, Nishimura CJ, Imanirad P, Kahrizi K, Riazalhosseini Y, Malekpour M, Kochakian N, Jamali P, Van Camp G, Smith RJ, Najmabadi H. Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus. Am J Med Genet A. 2007 Jul 15;143A(14):1623-9. doi: 10.1002/ajmg.a.31718. Citation on PubMed
- Moreno-Pelayo MA, del Castillo I, Villamar M, Romero L, Hernandez-Calvin FJ, Herraiz C, Barbera R, Navas C, Moreno F. A cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family. J Med Genet. 2001 May;38(5):E13. doi: 10.1136/jmg.38.5.e13. No abstract available. Citation on PubMed or Free article on PubMed Central
- Mustapha M, Weil D, Chardenoux S, Elias S, El-Zir E, Beckmann JS, Loiselet J, Petit C. An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. Hum Mol Genet. 1999 Mar;8(3):409-12. doi: 10.1093/hmg/8.3.409. Citation on PubMed
- Naz S, Alasti F, Mowjoodi A, Riazuddin S, Sanati MH, Friedman TB, Griffith AJ, Wilcox ER, Riazuddin S. Distinctive audiometric profile associated with DFNB21 alleles of TECTA. J Med Genet. 2003 May;40(5):360-3. doi: 10.1136/jmg.40.5.360. No abstract available. Citation on PubMed or Free article on PubMed Central
- Pfister M, Thiele H, Van Camp G, Fransen E, Apaydin F, Aydin O, Leistenschneider P, Devoto M, Zenner HP, Blin N, Nurnberg P, Ozkarakas H, Kupka S. A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations. Cell Physiol Biochem. 2004;14(4-6):369-76. doi: 10.1159/000080347. Citation on PubMed
- Verhoeven K, Van Laer L, Kirschhofer K, Legan PK, Hughes DC, Schatteman I, Verstreken M, Van Hauwe P, Coucke P, Chen A, Smith RJ, Somers T, Offeciers FE, Van de Heyning P, Richardson GP, Wachtler F, Kimberling WJ, Willems PJ, Govaerts PJ, Van Camp G. Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. Nat Genet. 1998 May;19(1):60-2. doi: 10.1038/ng0598-60. Erratum In: Nat Genet 1999 Apr;21(4):449. Citation on PubMed
The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.