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Application of Next-Generation Sequencing to Hearing Loss

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Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders

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Abstract

Hearing loss is the most common birth defect and sensorineural disorder in humans. Hearing loss can be syndromic or nonsyndromic and can be further divided based on mode of inheritance. With over 100 genes responsible for the etiology of hearing loss, Sanger sequencing, being a traditional gene-by-gene approach, has become an unfavorable strategy in terms of cost and time. Next-generation sequencing technology offers the advantage of sequencing multiple genes in parallel with lower cost and higher time-efficiency and has quickly become a fundamental tool for targeted panel-based hearing loss diagnostics. In this chapter, we discuss the application of next-generation sequencing to hearing loss, address successes and challenges of the approach, examine the current role of whole exome sequencing and comment on the future of whole genome sequencing. We conclude that the application of next generation sequencing will tremendously broaden our knowledge of hearing loss; the outcome of which includes rapid and accurate diagnosis that would result in an earlier and more effective intervention.

An erratum to this chapter can be found at http://dx.doi.org/10.1007/978-3-319-56418-0_17

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Author information

Authors and Affiliations

  1. Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA

    Xinjian Wang Ph.D., Lisa Dyer Ph.D. & Kejian Zhang M.D., MBA

  2. Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA

    Lisa Dyer Ph.D., Kejian Zhang M.D., MBA & C. Alexander Valencia Ph.D.

  3. Ear and Hearing Center, Division of Pediatric Otolaryngology-Head and Neck Surgery, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA

    John Greinwald Jr. M.D.

  4. Department of Otolaryngology-Head and Neck Surgery, University of Cincinnati College of Medicine, Cincinnati, OH, USA

    John Greinwald Jr. M.D.

  5. Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Ave., MLC7016 R1028, Cincinnati, OH, 45229, USA

    C. Alexander Valencia Ph.D.

Authors
  1. Xinjian Wang Ph.D.
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  2. Lisa Dyer Ph.D.
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  3. Kejian Zhang M.D., MBA
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  4. John Greinwald Jr. M.D.
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  5. C. Alexander Valencia Ph.D.
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Corresponding author

Correspondence to C. Alexander Valencia Ph.D. .

Editor information

Editors and Affiliations

  1. Molecular Diagnostic Laboratory, Baylor College of Medicine, Houston, Texas, USA

    Lee-Jun C. Wong

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Wang, X., Dyer, L., Zhang, K., Greinwald, J., Alexander Valencia, C. (2017). Application of Next-Generation Sequencing to Hearing Loss. In: Wong, LJ. (eds) Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders. Springer, Cham. https://doi.org/10.1007/978-3-319-56418-0_5

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