Skip to main content

Hearing Loss

  • Chapter
  • First Online:
Diagnostic Molecular Pathology in Practice
  • 2258 Accesses

Abstract

A 1-year-old girl with profound congenital hearing loss presented to the pediatric genetics clinic because her parents wanted to know why their child was deaf. They were also contemplating another pregnancy and sought to learn about the risk of having a second child with hearing loss. The patient’s mother had northern European ancestry, whereas the father was of Ashkenazi Jewish extraction.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 84.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Armitage IM, Burke JP, Buffin JT (1995) Visual impairment in severe and profound sensorineural deafness. Arch Dis Child 73:53–56

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  2. Marres HA (1998) Congenital abnormalities of the inner ear. In: Ludman H, Wright T (eds) Diseases of the ear. Arnold & Oxford University Press, Bath

    Google Scholar 

  3. ACMG (2002) Genetics evaluation guidelines for the etiologic diagnosis of congenital hearing loss. Genetic evaluation of congenital hearing loss expert panel. ACMG statement. Genet Med 4:162–171

    Article  Google Scholar 

  4. Del Castillo I, Moreno-Pelayo MA, Del Castillo FJ et al (2003) Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Am J Hum Genet 73:1452–1458

    Article  PubMed  PubMed Central  Google Scholar 

  5. Kelley PM, Abe S, Askew JW et al (1999) Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12. Genomics 62:172–176

    Article  PubMed  CAS  Google Scholar 

  6. Van Laer L, Coucke P, Mueller RF et al (2001) A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. J Med Genet 38:515–518

    Article  PubMed  PubMed Central  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  8. Morell RJ, Kim HJ, Hood LJ et al (1998) Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with non-syndromic recessive deafness. N Engl J Med 339:1500–1505

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  Google Scholar 

  10. Petit C, Levilliers J, Marlin S et al (2001) Hereditary hearing loss. In: Scriver CR, Beaudet AL, Sly WS et al (eds) The metabolic and molecular bases of inherited disease, vol 4, 8th edn. McGraw Hill, New York

    Google Scholar 

  11. Mason JA, Herrmann KR (1998) Universal infant hearing screening by automated auditory brainstem response measurement. Pediatrics 101:221–228

    Article  PubMed  CAS  Google Scholar 

  12. Parving A (1999) The need for universal neonatal hearing screening – some aspects of epidemiology and identification. Acta Paediatr Suppl 88:69–72

    Article  PubMed  CAS  Google Scholar 

  13. Smith RJ, Hone S (2003) Genetic screening for deafness. Pediatr Clin North Am 50:315–329

    Article  PubMed  Google Scholar 

  14. Nance WE (2003) The genetics of deafness. Ment Retard Dev Disabil Res Rev 9:109–119

    Article  PubMed  Google Scholar 

  15. Morton CC (2002) Genetics, genomics and gene discovery in the auditory system. Hum Mol Genet 11:1229–1240

    Article  PubMed  CAS  Google Scholar 

  16. Friedman TB, Griffith AJ (2003) Human non-syndromic sensorineural deafness. Annu Rev Genomics Hum Genet 4:341–402

    Article  PubMed  CAS  Google Scholar 

  17. Putcha GV, Bejjani BA, Bleoo S et al (2007) A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. Genet Med 9:413–426

    Article  PubMed  CAS  Google Scholar 

  18. Del Castillo I, Villamar M, Moreno-Pelayo MA et al (2002) A deletion involving the connexin 30 gene in non-syndromic hearing impairment. N Engl J Med 346:243–249

    Article  PubMed  Google Scholar 

  19. Wilch E, Zhu M, Burkhart KB et al (2006) Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele. Am J Hum Genet 79:174–179

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  20. Rodriguez-Paris J, Schrijver I (2009) The digenic hypothesis unraveled: the GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis. Biochem Biophys Res Commun 389:354–359

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Iris Schrijver .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2011 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Schrijver, I. (2011). Hearing Loss. In: Schrijver, I. (eds) Diagnostic Molecular Pathology in Practice. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-19677-5_5

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-19677-5_5

  • Published:

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-19676-8

  • Online ISBN: 978-3-642-19677-5

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics