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Hereditary hearing loss in humans: the importance of genetic approaches for clinical medicine and basic science

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e-Neuroforum

Abstract

Hereditary hearing loss is one of the most common monogenic diseases in humans and, depending on the severity of symptoms and age of onset, dysfunction of one of the main sensory systems can cause significant problems for the affected individual and his/her social environment. The diagnostic workup of hearing impairment is complicated by a pronounced phenotypic variability and extensive genetic heterogeneity. Nevertheless, many forms of monogenic hearing impairment have been elucidated in recent years by genetic approaches. In addition to improved counselling and medical management of patients and families, these research findings have contributed significantly to the identification of functionally relevant molecules of the inner ear and have thus helped us to better understand the molecular physiology of hearing and the pathophysiology of hearing impairment.

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References

  1. Morton CC, Nance WE (2006) Newborn hearing screening-a silent revolution. N Engl J Med 354:2151–2164

    Article  CAS  PubMed  Google Scholar 

  2. Davis AC (1989) The prevalence of hearing impairment and reported hearing disability among adults in Great Britain. Int J Epidemiol 18:911–917

    Article  CAS  PubMed  Google Scholar 

  3. Noben-Trauth K, Zheng QY, Johnson KR (2003) Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss. Nat Genet 35:21–23

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  4. Toriello HV, Smith SD (eds) (2013) Hereditary hearing loss and its syndromes (Oxford monographs on medical genetics), 3rd edn. Oxford University Press, Oxford

  5. Wang Q, Xue Y, Zhang Y et al (2013) Genetic basis of Y-linked hearing impairment. Am J Hum Genet 92:301–306

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  6. Altshuler D, Daly MJ, Lander ES (2008) Genetic mapping in human disease. Science 322:881–888

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  7. Boycott KM, Vanstone MR, Bulman DE, MacKenzie AE (2013) Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat Rev Genet 14:681–691

    Article  CAS  PubMed  Google Scholar 

  8. Leibovici M, Safieddine S, Petit C (2008) Mouse models for human hereditary deafness. Curr Top Dev Biol 84:385–429

    Article  CAS  PubMed  Google Scholar 

  9. Vrijens K, Van Laer L, Van Camp G (2008) Human hereditary hearing impairment: mouse models can help to solve the puzzle. Hum Genet 124:325–348

    Article  PubMed  Google Scholar 

  10. Brown SD, Hardisty-Hughes RE, Mburu P (2008) Quiet as a mouse: dissecting the molecular and genetic basis of hearing. Nat Rev Genet 9:277–290

    Article  CAS  PubMed  Google Scholar 

  11. Whitfield TT (2002) Zebrafish as a model for hearing and deafness. J Neurobiol 53:157–171

    Article  PubMed  Google Scholar 

  12. Read AP, Newton VE (1997) Waardenburg syndrome. J Med Genet 34:656–665

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  13. Lewis MA, Quint E, Glazier AM et al (2009) An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice. Nat Genet 41:614–668

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  14. Mencía A, Modamio-Høybjør S, Redshaw N et al (2009) Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss. Nat Genet 41:609–613

    Article  PubMed  Google Scholar 

  15. Prezant TR, Agapian JV, Bohlman MC et al (1993) Mitochondrial ribosomal RNA mutation associated with both antibiotic- induced and non-syndromic deafness. Nat Genet 4:289–294

    Article  CAS  PubMed  Google Scholar 

  16. Estivill X, Govea N, Barcelo E et al (1998) Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. Am J Hum Genet 62:27–35

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  17. Jacobs HT, Hutchin TP, Kappi T et al (2005) Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment. Eur J Hum Genet 13:26–33

    Article  CAS  PubMed  Google Scholar 

  18. Ameln S von, Wang G, Boulouiz R et al (2012) A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss. Am J Hum Genet 91:919–927

    Article  Google Scholar 

  19. Cheng J, Zhu Y, He S et al (2011) Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64. Am J Hum Genet 89:56–66

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  20. Ahmed ZM, Yousaf R, Lee BC et al (2011) Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74. Am J Hum Genet 88:19–29

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  21. Richardson GP, Monvel JB de, Petit C (2011) How the genetics of deafness illuminates auditory physiology. Annu Rev Physiol 73:311–334

    Article  CAS  PubMed  Google Scholar 

  22. Dror AA, Avraham KB (2010) Hearing impairment: a panoply of genes and functions. Neuron 68:293–308

    Article  CAS  PubMed  Google Scholar 

  23. Petit C, Richardson GP (2009) Linking genes underlying deafness to hair-bundle development and function. Nat Neurosci 12:703–710

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  24. Safieddine S, El-Amraoui A, Petit C (2012) The auditory hair cell ribbon synapse: from assembly to function. Annu Rev Neurosci 35:509–528

    Article  CAS  PubMed  Google Scholar 

  25. Moser T, Predoehl F, Starr A (2013) Review of hair cell synapse defects in sensorineural hearing impairment. Otol Neurotol 34:995–1004

    Article  PubMed  Google Scholar 

  26. Del Castillo FJ, Del Castillo I (2012) Genetics of isolated auditory neuropathies. Front Biosci 17:1251–1265

    Article  Google Scholar 

  27. Zdebik AA, Wangemann P, Jentsch TJ (2009) Potassium ion movement in the inner ear: insights from genetic disease and mouse models. Physiology 24:307–316

    Article  CAS  PubMed  Google Scholar 

  28. Alford RL, Arnos KS, Fox M et al (2014) American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. Genet Med 16:347–355

    Article  PubMed  Google Scholar 

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Conflict of interest. The corresponding author states that there are no conflicts of interest.

The accompanying manuscript does not include studies on humans or animals.

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Authors and Affiliations

  1. Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany

    C. Kubisch M.D.

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  1. C. Kubisch M.D.
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Correspondence to C. Kubisch M.D..

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Translated from the original German by Karin Moan.

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Kubisch, C. Hereditary hearing loss in humans: the importance of genetic approaches for clinical medicine and basic science. e-Neuroforum 5, 67–71 (2014). https://doi.org/10.1007/s13295-014-0061-9

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  • DOI: https://doi.org/10.1007/s13295-014-0061-9

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