Etiology of Genetic Hearing Loss
DOI:
https://doi.org/10.51445/sja.auditio.vol4.2015.0049Keywords:
hearing loss, geneticsAbstract
Currently, the high incidence of non-syndromic hearing loss in the Spanish population is allowing progress in the identification of the genes involved, as well as the possible auditory and non-auditory consequences depending on the genetic nature of the pathology. Speech therapy intervention is essential in the treatment of this type of hearing loss. The objective of this review is to gather knowledge about the most numerous non-syndromic hearing loss in Spain, the effect caused by each specific mutation and the consequences they cause, so that a medical-surgical treatment can be devised. The most common mutations in the Spanish population are those originated in the GJB2, GJB6 and OTOF genes; each of them presents different phenotypes. Those responsible for the irregularities are the connexins in the cells of the ear, proteins that form intercellular gap junctions for the exchange of small molecules and ions. The diversities for each hearing loss depend on the place occupied by the cells that have their modified connexins. The treatment of this type of hearing loss is especially important for the alterations caused by certain connexins. One of the examples is the integrity of the auditory nerve that will give options for the cochlear implant. Analyzing these particularities together with other factors such as the age of onset or the degree of loss, an attempt will be made to develop a treatment with particularities for each patient.
Downloads
Visibility and Altmetrics
Metrics
References
Angulo, C.M., Gallo-Terán, J., Señaris, B., Fontalva, A., Gonzales-Aguado, R., Fernandez-Luna, J. L. (2011) Prevalencia de la mutación A1555G del gen MTRNR1 en pacientes con hipoacusia postlocutiva sin antecedentes familiares de sordera. Acta Otorrinoaringol. Esp; 62(2), 83-86. https://doi.org/10.1016/j.otorri.2010.08.003
Avraham, K.B. (1998). Hear come more genes!. Nat Med, 4(11),1238-1239. https://doi.org/10.1038/3215
Avraham, K.B. (2001). Inherited connexin mutations associated with hearing loss. Cell Commun Adhes, 8(4-6), 419-24. https://doi.org/10.3109/15419060109080764
Avraham, K.B., Kanaan, M.J. (2012). Genomic advances for gene discovery in hereditary hearing loss. Basic Clin Physiol Pharmacol. 723(3), 93-7. https://doi.org/10.1515/jbcpp-2012-0033
Bartolome, M.V., Vago, P., Gil-Loyzaga, P., Humbert, G., Joubert-Caron, R., Pujol, R., Lenoir, M. (1999). Sequential changes in anti-Gal-1 staining of the rat organ of Corti following amikacin exposure. Brain Res, 822, 43-51. https://doi.org/10.1016/S0006-8993(99)01070-7
Bartolome, M.V., Maestre, L., Gil-Loyzaga, P. (2001). Galectine-1 expression in the cochlea of C57/BL/6 mice during aging. NeuroReport, 12, 3107-3110. https://doi.org/10.1097/00001756-200110080-00025
Bartolomé, M.V., Casanova, L., Carricondo, F., del Castillo, E., Jorcano, J.L., Gil-Loyzaga, P. (2002a). Abnormal cochlea linked to deafness in transgenic mice expressing human cytokeratin K8. Histol Histopathol, 17(3), 827-36
Bartolome, M.V.; Castillo, E., Maestre, L., Carricondo, F., Poch-Broto, J., Gil-Loyzaga, P. (2002b). Effects of againg on C57BL/6J mice: An electrophysiological and morphological study. Adv. Otorhinolaryngol, 59, 106-111. https://doi.org/10.1159/000059247
Bartolome, M.V., Zuluaga, P., Carricondo, F., Gil-Loyzaga, P. (2009). Immunocytochemical detection of synaptophysin in C57BL/6 mice cochlea during aging process. Brain Res Rev, 60(2), 341-8. https://doi.org/10.1016/j.brainresrev.2009.02.001
Bartolome MV. (2012). Qué se sabe de la cóclea?. Actas de IX Congreso de la Asociación Española de Audiología. pp 11-21.
Berrettini, S., Forli, F., Passetti, S., Rocchi, A., Pollina, L., Cecchetti, D., Mancuso, M., Siciliano, G. (2008). Mitochondrial non-syndromic sensorineural hearing loss: a clinical, audiological and pathological study from Italy, and revision of the literature. Biosci Rep, 28 (1), 49-59. https://doi.org/10.1042/BSR20070027
Ben-Yosef, T., Friedman, T.B. (2003). The genetic bases for syndromic and nonsyndromic deafness among Jews. Trends Mol Me, 9(11):496-502. https://doi.org/10.1016/j.molmed.2003.09.004
Brownstein, Z., Avraham, K.B. (2009). Deafness genes in Israel: implications for diagnostics in the clinic. Pediatr Res, 66(2),128-34. https://doi.org/10.1203/PDR.0b013e3181aabd7f
Cabanillas, R., Cadiñanos, J. (2012) Hipoacusias hereditarias: asesoramiento genético. Acta Otorrinolaringol Esp, 63(3), 218- 229. https://doi.org/10.1016/j.otorri.2011.02.006
Calandre-Hoenigsfeld, L., Bermejo-Pareja, F. (2011). Síntomas y síndromes de difícil clasificación en una serie ambulatoria de 5.398 pacientes neurológicos diagnosticados según la CIE-10. Rev Neurol, 53 (9), 513-523. https://doi.org/10.33588/rn.5309.2011498
Castillo del, F.J., Rodríguez-Ballesteros, M., Martín, Y., Arellano, B., Gallo-Terán, J,, Morales-Angulo, C,, Ramírez-Camacho, R., Tapia, M.C., Solanellas, J., Martínez-Conde, A., Villamar, M., Moreno-Pelayo, M.A., Moreno, F., Castillo del, I. (2003). Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss. J Med Genet. 40, 632-636. https://doi.org/10.1136/jmg.40.8.632
Castillo del, F.J., Rodríguez-Ballesteros, M., ... del Castillo, I.J. (2005). A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. Med Genet. 42(7), 588-94. https://doi.org/10.1136/jmg.2004.028324
Castillo del, E., Carricondo, F., Bartolomé, M.V., Vicente-Torres, A., Poch Broto, J., Gil-Loyzaga, P. (2006). Presbycusis: neural degeneration and aging on the auditory receptor of C57/ BL6J mice. Acta Otorrinolaringol Esp, 57(9), 383-387. https://doi.org/10.1016/S0001-6519(06)78734-9
Castillo del I, Moreno-Pelayo, M.A., Moreno-Herrero, F. (2007). Bases genéticas de las hipoacusias. En Tratado de otorrinolaringología y cirugía de cabeza y cuello. Tomo II. Otología. Eds: Suárez C, Gil-Carcedo LM, Marco J, Medina JE, Ortega P, Trinidad J. 2ª edición. Madrid: Editorial Médica Panamericana Capítulo 119. Pp 1719-1742.,
Christie, K.W., Eberl, D.F. (2014). Noise-induced hearing loss: new animal models. Curr Opin Otolaryngol Head Neck Surg, 22(5):374-83. https://doi.org/10.1097/MOO.0000000000000086
EUROCAT Statistical Monitoring Report - 2009. Uploaded to EUROCAT website January 2012) EUROCAT Joint Action 2011- 2013 is funded by the Public Health Programme 2008-2013 of the European Commission. ww.eurocat-network.eu
Dalamón, V., Wernert, F.M., Lotersztein, V.C., Patricio O. Craig, P.O., Reynoso, R., Barteik, M.E. (2013). Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype-phenotype analysis in moderate cases. Mol Biol Rep, 40, 6945-6955. https://doi.org/10.1007/s11033-013-2814-x
Feldmann, D., Denoyelle, F., Blons, H.,Lyonnet, S., Loundon, N., Rouillon, I., Hadj-Rabia, S., Petit, C., Couderc, R., Garabédian, E.N., Marlin,S. (2005). The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. Am J Med Genet, 137(2), 225-7. https://doi.org/10.1002/ajmg.a.30765
Fontané-Ventura, J. (2005). Deficit auditivo. Retraso en el habla de origen audígeno J. Rev Neurol, 41 (Supl 1), S25-S37.
https://doi.org/10.33588/rn.41S01.2005388
Gasparini, P., Rabionet, R., Barbujani, G., Melchionda, S., Petersen, M., Brøndum-Nielsen, K., Metspalu, A., Oitmaa E., Pisano, M., Fortina, P., Zelante, L., Estivill, X. (2000), High carrier frequency of the 35 del G deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35 del G. Eur J Hum Genet, 8, 19-23. https://doi.org/10.1038/sj.ejhg.5200406
Guillén-Navarro, E., Ballesta-Martínez, M.J. (2011). Genética y enfermedad. Concepto de genética médica. Nefrologia, 2(1), 3-10.
Kawaguchi, K. (2005). Hipoacusia de causa genética. Re. Otorrinolaringol. Cir. Cabeza y Cuello, 65,39-44.
Huesca F, Domínguez J.E. (2001). Genes, proteínas y mutaciones involucradas en la fisiopatología de la audición. Anales de Otorrinolaringologia Mexicana, 4, 17-21.
Kawaguchi, K. (2005). Hipoacusia de causa genética. Re. Otorrinolaringol. Cir. Cabeza y Cuello, 65, 39-44.
Lenz, D.R., Karen B. AvrahamK.B. (2011). Hereditary hearing loss: From human mutation to mechanism. Hearing Res, 281(1- 2), 3-10. https://doi.org/10.1016/j.heares.2011.05.021
Liu, X.Z., Xia, X.J., Adams, J., Chen, Z.Y., Welch, K.O., Tekin, M., Ouyang, X.M., Kristiansen, A., Pandya, A., Balkany, T., Arnos, K.S., Nance, W.E. (2011). Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness. Hum Mol Genet, 10(25), 2945-51. https://doi.org/10.1093/hmg/10.25.2945
Liu, W., Glueckert, R., Linthicum, F.H., Rieger, G., Blumer, M., Bitsche, M., Pechriggl, E., Rask-Andersen, H., Schrott- Fischer, A. (2014). Possible role of gap junction intercellular channels and connexin 43 in satellite glial cells (SGCs) for preservation of human spiral ganglion neurons: A comparative study with clinical implications. Cell Tissue Res, 355(2):267-78. https://doi.org/10.1007/s00441-013-1735-2
López-Bigas, N., Olivé, M., Rabionet, R.,Ben-David, O., Martínez-Matos, J.A., Bravo, O., Banchs, I,, Volpini, V., Gasparini, P., Avraham, K.B., Ferrer, .I, Arbonés, M.L., Estivill, X.( 2001). Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. Hum Mol Genet, 10(9):947-52. https://doi.org/10.1093/hmg/10.9.947
López-Bigas, N., Audit, B., Ouzounisa, Ch., Parrab, G. Guigo, R. (2005). Are splicing mutations the most frequent cause of hereditary disease? FEBS Letters, 579, 1900-1903. https://doi.org/10.1016/j.febslet.2005.02.047
Marlin, S.D. Feldmann; D., ... Denoyelle, F. (2005). GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing impaired patients. Arch Otolaryngol Head Neck Surg, 131, 481-7. https://doi.org/10.1001/archotol.131.6.481
Martínez, A., Acuña, R., Figueroa, V., Miripillan, J., Nicholson, B. (2009). Gap Junction Channels Dysfunction In Deafness And Hearing Loss. Antioxid Redox Signal, 11 (2), 309-322. https://doi.org/10.1089/ars.2008.2138
Nickel, R., Forge, A. (2008). Gap junctions and connexins in the inner ear: their roles in homeostasis and deafness. Curr Opin Otolaryngol Head Neck Surg. 16(5), 452-7. https://doi.org/10.1097/MOO.0b013e32830e20b0
Oliva, R., Ballesta, F., Oriola, J., Clariá, J. (2008) Genética Médica. Diaz de Santos Ediciones. Barcelona.
Passarge, E. (2010). Genética. Texto y Atlas (3ª Ed.). Madrid: Médica Panamericana.
Pierce B.A. (2009) Genética. Un enfoque conceptual (3ªEd.) Madrid: Médica Panamericana.
Rabionet, R., Gasparini, P., Estivill, X. (2000). Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins. Hum Mutat, 16(3), 190-202. https://doi.org/10.1002/1098-1004(200009)16:3
Rabionet, R., López-Bigas, N., Arbonès, M.L., Estivill, X. (2002). Connexin mutations in hearing loss, dermatological and neurological disorders. Trends in molecular medicine, 8 (5), 205- 212. https://doi.org/10.1016/S1471-4914(02)02327-4
Rehm, H.L., Williamson, R.E., Keena, M.A., Corey, D.P., Korf, B.R. (2003), Comprendiendo la genética de la sordera. Una guía para los pacientes y sus familias. Harvard Medical School Center for Hereditary Deafness.
Usami, S.I., Abe, S., Shinkawa, H., Kimberling, W.J. (1998). Sensorineural hearing loss caused by mitochondrialdna mutations: specialreference to thea1555g mutation. J. Commun. Disord, 31, 423-435. https://doi.org/10.1016/S0021-9924(98)00014-8
Vahava, O., Morell, R., Lynch, E.D., Weiss, S., Kagan, M.E.,Ahituv, N.,Morrow, J.E., Lee, M.K.,Skvorak, A.B., Morton, C.C.,Blumenfeld, A., Frydman, M., Friedman, T.B., King, M.C., Avraham. K.B. (1998). Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science, 279(5358), 1950-1954. https://doi.org/10.1126/science.279.5358.1950
World Health Organization (2006) WHO primary ear and hearing care training resource advanced level. http://www.who.int/pbd/ deafness/activities/hearing_care/en/
World Health Organization (2013) Multi-country assessment of national capacity to provide hearing care. http://www.who.int/pbd/ publications/WHOReportHearingCare_Englishweb.pdf?ua=1
Zelante, l., Gasparini, P., Estivill, X., Melchionda, S., D'Agruma, L., Govea, N., Milá, M., Della Monica, M., Lutfi, J., Shohat, M., Mansfield, E., Delgrosso, K., Rappaport, E., Surrey, S., Fortina, P. (1997). Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet, 6, 1605-1609. https://doi.org/10.1093/hmg/6.9.1605
Zweier, C., Temple, I.K., Beemer, F., Zackai, E., Lerman-Sagie, T., Weschke, B., Anderson, C.E., Rauch, A. (2003). Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome. J Med Genet, 40, 601-605 https://doi.org/10.1136/jmg.40.8.601
Published
Versions
- 2021-09-15 (2)
- 2015-02-01 (1)
How to Cite
Issue
Section
License
Copyright (c) 2015 Asociación Española de Audiología
This work is licensed under a Creative Commons Attribution 3.0 Unported License.
Articles published after 2020
Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed, unless otherwise indicated, under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal. The authors can choose between the following Creative Commons licenses: https://creativecommons.org/about/cclicenses/
Articles published between 2001 and 2020
The texts published in this journal in the section "AUDITIO 2001-2020" are subject - unless otherwise indicated - to a Creative Commons Attribution 3.0 Spain license. You can copy, distribute, communicate them publicly, make derivative works and commercial uses provided that you acknowledge the credits of the works (authorship, name of the journal, publishing institution) in the manner specified by the authors or by the journal. The full license can be consulted at http://creativecommons.org/licenses/by/3.0/es/deed.es.
