A review of studies using next-generation sequencing for the genetic diagnosis of hearing loss

DOI
  • Matsunaga Tatsuo
    National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center
  • Suzuki Naohiro
    National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center
  • Mutai Hideki
    National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center
  • Namba Kazuhiro
    National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center
  • Kaga Kimitaka
    National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center

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Other Title
  • 次世代シークエンサーを用いた難聴の遺伝子診断に関する検討

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Abstract

In this review, we evaluate recent studies that have used next-generation sequencing (NGS) for the genetic diagnosis of hearing loss. Hereditary hearing loss is genetically heterogeneous and caused by a large number of deafness genes. Because of the extreme genetic heterogeneity, genetic diagnosis has been applied only to a subset of patients. NGS can perform parallel sequencing of billions of nucleotides at low cost and high speed, which makes it ideally suited for the comprehensive genetic testing of hereditary hearing loss. We are developing an original protocol based on NGS for the targeted genomic capture of all known deafness genes with the aim of establishing an efficient genetic test for deafness.

Journal

  • Otology Japan

    Otology Japan 23 (5), 903-907, 2013

    Japan Otological Society

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