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Hereditäre Schwerhörigkeit

Teil 1: Überblick und praktische Hinweise zur Diagnostik

Hereditary hearing loss

Part 1: Diagnostic overview and practical advice

HNO volume 61, pages 353–363 (2013)Cite this article

Zusammenfassung

Schwerhörigkeit ist der häufigste angeborene sensorische Defekt des Menschen. Es wird geschätzt, dass zwischen 1 und 5 von 1000 geborenen Kindern eine Hörminderung von mindestens 40 dB aufweisen. Unbehandelte Taubheit hat enorme ökonomische Folgen für die Individuen und die Gesellschaft. Bei 50–70 % der angeborenen Schwerhörigkeiten wird eine genetische Ursache vermutet. Bis dato sind über 130 Loci, die verschiedene Schwerhörigkeitsformen verursachen, beschrieben worden. Einige Loci enthalten mehr als ein Gen, und an manchen Loci sind die Gene noch nicht identifiziert worden. Die vorliegende Arbeit soll den komplexen Hintergrund der genetischen Einflüsse der Schwerhörigkeit erhellen und dem Kliniker dabei helfen, die angemessene Entscheidung bezüglich der geeigneten genetischen Untersuchung betroffener Patienten zu treffen. Der 1. Teil befasst sich mit den nichtsyndromalen Hörverlusten, während sich der 2. Teil mit den häufigsten syndromalen Hörverlusten befassen wird.

Abstract

Hearing loss is the most frequently occurring congenital sensory defect in humans. It is believed that between one and five of every 1000 children born suffers from hearing loss of at least 40 dB. The economic consequences of deafness are staggering and affect not only the individual patient but also society as a whole. A genetic cause is suspected in 50 %–70 % of cases of congenital hearing loss. To date over 130 loci have been associated with genetic hearing loss, with some loci containing more than one gene and others containing as yet unidentified genes. The present article is intended to provide some insight into the complex background issues involved and offer guidance on appropriate decision-making with regard to genetic testing in affected patients. Part 1 is concerned with non-syndromic hearing loss, while part 2 deals with syndromic hearing loss.

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Literatur

  1. Friedman TB, Griffith AJ (2003) Human nonsyndromic sensorineural deafness. Annu Rev Genomics Hum Genet 4:341–402

    PubMed  Article  CAS  Google Scholar 

  2. Tekin M, Duman T, Bogoclu G et al (2003) Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: roles of parental consanguinity and assortative mating. Hum Mutat 21:552–553

    PubMed  Article  Google Scholar 

  3. Lang F, Vallon V, Knipper M et al (2007) Functional significance of channels and transporters expressed in the inner ear and kidney. Am J Physiol Cell Physiol 293:C1187–C1208

    PubMed  Article  CAS  Google Scholar 

  4. Phillips KR, Biswas A, Cyr JL (2008) How hair cells hear: the molecular basis of hair-cell mechanotransduction. Curr Opin Otolaryngol Head Neck Surg 16:445–451

    PubMed  Article  Google Scholar 

  5. Snoeckx RL, Huygen PL, Feldmann D et al (2005) GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet 77:945–957

    PubMed  Article  CAS  Google Scholar 

  6. Smith RJ, Bale JF, Jr, White KR (2005) Sensorineural hearing loss in children. Lancet 365:879–890

    PubMed  Article  Google Scholar 

  7. Shield B (2006) Evaluation of the social and economic costs of hearing impairment. http://www.hear-it.org/multimedia/Hear_It_Report_October_2006.pdf. Zugegriffen: 18. März 2013

  8. Matsunaga T (2009) Value of genetic testing in the otological approach for sensorineural hearing loss. Keio J Med 58:216–222

    PubMed  Article  CAS  Google Scholar 

  9. Toriello HV, Reardon W, Gorlin RJ (2004) Hereditary hearing loss and its syndromes. Oxford University Press, New York

  10. Pötzsch O (2012) Geburten in Deutschland. Statistisches Bundesamt, Wiesbaden

  11. Van Camp G, Smith RJH (2012) Hereditary hearing loss homepage. http://www.hereditaryhearingloss.org. Zugegriffen: 18. März 2013

  12. Finsterer J, Fellinger J (2005) Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing. Int J Pediatr Otorhinolaryngol 69:621–647

    PubMed  Article  Google Scholar 

  13. Gasparini P, Rabionet R, Barbujani G et al (2000) High carrier frequency of the 35delG deafness mutation in European populations. Genetic analysis consortium of GJB2 35delG. Eur J Hum Genet 8:19–23

    PubMed  Article  CAS  Google Scholar 

  14. Ballana E, Ventayol M, Rabionet R et al (2012) Connexins and deafness homepage. http://davinci.crg.es/deafness/. Zugegriffen: 18. März 2013

  15. Siem G, Fagerheim T, Jonsrud C et al (2010) Causes of hearing impairment in the norwegian paediatric cochlear implant program. Int J Audiol 49:596–605

    PubMed  Article  Google Scholar 

  16. Mahdieh N, Rabbani B (2009) Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequency. Int J Audiol 48:363–370

    PubMed  Article  Google Scholar 

  17. Zelante L, Gasparini P, Estivill X et al (1997) Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in mediterraneans. Hum Mol Genet 6:1605–1609

    PubMed  Article  CAS  Google Scholar 

  18. Castillo FJ del, Rodriguez-Ballesteros M, Alvarez A et al (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. J Med Genet 42:588–594

    PubMed  Article  Google Scholar 

  19. Kar R, Batra N, Riquelme MA et al (2012) Biological role of connexin intercellular channels and hemichannels. Arch Biochem Biophys 524:2–15

    PubMed  Article  CAS  Google Scholar 

  20. 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 16:452–457

    PubMed  Article  Google Scholar 

  21. Park HJ, Shaukat S, Liu XZ et al (2003) Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet 40:242–248

    PubMed  Article  CAS  Google Scholar 

  22. Ito T, Choi BY, King KA et al (2011) SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct. Cell Physiol Biochem 28:545–552

    PubMed  Article  CAS  Google Scholar 

  23. Petersen MB, Wang Q, Willems PJ (2008) Sex-linked deafness. Clin Genet 73:14–23

    PubMed  Article  CAS  Google Scholar 

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Danksagung

Die Autoren möchten Frau Daniela Beyer für ihre Hilfe bei der Herstellung der Graphiken sowie Prof. Dr. med. Manfred Stuhrmann-Spangenberg für das Lesen und seine wertvollen Hinweise zu diesem Manuskript danken.

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Affiliations

  1. Klinik für Hals-Nasen-Ohren-Heilkunde, Medizinische Hochschule Hannover, Carl-Neuberg-Str. 1, 30625, Hannover, Deutschland

    W.F. Burke, T. Lenarz & H. Maier

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  1. W.F. Burke
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  2. T. Lenarz
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  3. H. Maier
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Correspondence to W.F. Burke.

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Burke, W., Lenarz, T. & Maier, H. Hereditäre Schwerhörigkeit. HNO 61, 353–363 (2013). https://doi.org/10.1007/s00106-013-2689-0

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  • DOI: https://doi.org/10.1007/s00106-013-2689-0

Schlüsselwörter

  • Schwerhörigkeit
  • Connexin 26
  • Genetik der Schwerhörigkeit
  • GJB2
  • SLC26A4

Keywords

  • Deafness
  • Connexin 26
  • Genetics of hearing loss
  • GJB2
  • SLC26A4