Abstract
Hearing loss is the most common birth defect and sensorineural disorder in humans. Hearing loss results from obstructions in the transmission of the sound anywhere between the outer ear and auditory cortex in the brain. In a normal condition, the sound signal that is collected by the outer ear is amplified by the middle ear for transmission to the cochlea, which then converts this energy into electrical signals that are ultimately transmitted to the brain through the auditory nerves (Smith et al. 1993). Based on the defective anatomical structure involved, hearing loss can be classified as conductive, sensorineural, or mixed. Conductive hearing loss is a defect in conducting sound waves through outer and middle ear due to abnormalities of outer ear, tympanic membrane (eardrum), or ossicles of the middle ear. Sensorineural hearing loss (SNHL) is due to a defect located anywhere from cochlea to the auditory cortex. Mixed hearing loss is a combination of both conductive and sensorineural abnormalities. Depending on the age at onset, hearing loss can be classified as prelingual, present before speech development, or postlingual, present after speech development. Severity of the hearing loss is measured by decibels (dB), can be graded from mild (26–40 dB) to profound (90 dB), affecting from low to high frequencies (Smith et al. 1993).
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Bonnet C, Grati M, Marlin S et al (2011) Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis 6:21. doi:10.1186/1750-1172-6-21
Brownstein Z, Avraham KB (2009) Deafness genes in Israel: implications for diagnostics in the clinic. Pediatr Res 66:128–134. doi:10.1203/PDR.0b013e3181aabd7f
Brownstein Z, Friedman LM, Shahin H et al (2011) Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. Genome Biol 12:R89. doi:10.1186/gb-2011-12-9-r89
Cohen M, Phillips JA 3rd (2012) Genetic approach to evaluation of hearing loss. Otolaryngol Clin North Am 45:25–39. doi:10.1016/j.otc.2011.08.015
De Keulenaer S, Hellemans J, Lefever S et al (2012) Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next-generation sequencing platform. BMC Med Genomics 5:17. doi:10.1186/1755-8794-5-17
Hilgert N, Smith RJH, Van Camp G (2009) Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res 681:189–196. doi:10.1016/j.mrrev.2008.08.002
Kochhar A, Hildebrand MS, Smith RJH (2007) Clinical aspects of hereditary hearing loss. Genet Med 9:393–408. doi:10.1097/GIM.0b013e3180980bd0
Licastro D, Mutarelli M, Peluso I et al (2012) Molecular diagnosis of Usher syndrome: application of two different next-generation sequencing-based procedures. PLoS One 7:e43799. doi:10.1371/journal.pone.0043799
Morton CC, Nance WE (2006) Newborn hearing screening—a silent revolution. N Engl J Med 354:2151–2164. doi:10.1056/NEJMra050700
Raviv D, Dror AA, Avraham KB (2010) Hearing loss: a common disorder caused by many rare alleles. Ann N Y Acad Sci 1214:168–179. doi:10.1111/j.1749-6632.2010.05868.x
Schrauwen I, Sommen M, Corneveaux JJ et al (2013) A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next-generation sequencing. Am J Med Genet A 161:145–152. doi:10.1002/ajmg.a.35737
Shearer AE, DeLuca AP, Hildebrand MS et al (2010) Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. Proc Natl Acad Sci U S A 107:21104–21109. doi:10.1073/pnas.1012989107
Sivakumaran TA, Husami A, Kissell D et al (2013) Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing loss. Otolaryngol Head Neck Surg. doi:10.1177/0194599813482294
Smith RJ, Shearer AE, Hildebrand MS, Van Camp G (1993) Deafness and hereditary hearing loss overview. GeneReviewsTM
Tewhey R, Warner JB, Nakano M et al (2009) Microdroplet-based PCR enrichment for large-scale targeted sequencing. Nat Biotechnol 27:1025–1031. doi:10.1038/nbt.1583
Van Camp G, Willems PJ, Smith RJ (1997) Nonsyndromic hearing impairment: unparalleled heterogeneity. Am J Hum Genet 60:758–764
Vandebona H, Mitchell P, Manwaring N et al (2009) Prevalence of mitochondrial 1555A→G mutation in adults of European descent. N Engl J Med 360:642–644. doi:10.1056/NEJMc0806397
Voelkerding KV, Dames S, Durtschi JD (2010) Next-generation sequencing for clinical diagnostics—principles and application to targeted resequencing for hypertrophic cardiomyopathy: a paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology. J Mol Diagn 12:539–551. doi:10.2353/jmoldx.2010.100043
Zbar RI, Ramesh A, Srisailapathy CR et al (1998) Passage to India: the search for genes causing autosomal recessive nonsyndromic hearing loss. Otolaryngol Head Neck Surg 118:333–337
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 2013 C. Alexander Valencia
About this chapter
Cite this chapter
Valencia, C.A., Pervaiz, M.A., Husami, A., Qian, Y., Zhang, K. (2013). Application of Next-Generation–Sequencing in Hearing Loss Diagnosis. In: Next Generation Sequencing Technologies in Medical Genetics. SpringerBriefs in Genetics. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9032-6_7
Download citation
DOI: https://doi.org/10.1007/978-1-4614-9032-6_7
Published:
Publisher Name: Springer, New York, NY
Print ISBN: 978-1-4614-9031-9
Online ISBN: 978-1-4614-9032-6
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)