Clinical Features of <i>GJB2―</i>associated Hearing Loss Children

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  • Nakano Atsuko
    Division of Otorhinolaryngology, Chiba Children's Hospital
  • Arimoto Yukiko
    Division of Otorhinolaryngology, Chiba Children's Hospital
  • Mutai Hideki
    Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center
  • Matsunaga Tatsuo
    Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center Division of Medical Genetics Center, National Hospital Organization Tokyo Medical Center

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Other Title
  • <i>GJB2</i> 遺伝子変異が検出された小児難聴症例の検討
  • GJB2遺伝子変異が検出された小児難聴症例の検討
  • GJB2 イデンシ ヘンイ ガ ケンシュツ サレタ ショウニ ナンチョウ ショウレイ ノ ケントウ
  • Clinical features of GJB2 associated-hearing loss children

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Abstract

<p>　GJB2 gene mutation is the most common cause of genetic hearing loss. We conducted genetic testing for 231 patients with hearing loss of unknown cause from December 2008 to December 2016. A retrospective review was conducted of the clinical features of the 64 patients with GJB2 mutations, and the association with social health insurance-based genetic testing. Of the 64 patients, 59 were diagnosed as having hearing loss due to GJB2 gene mutations and 5 were diagnosed as carriers. Moderate hearing loss was the most common. Although the majority had symmetrical hearing loss, three patients had asymmetric hearing loss, with a difference of more than 30 dB between the two sides. Twenty-eight patients had undergone newborn hearing screening (NHS), 6 of the 28 were passed with bilateral or unilateral. In patients who could be followed up for more than 5 years, the average progression in the hearing level between age 3 and the final examination was 1 dB. Genetic testing is thought to be useful for predicting the prognosis of hearing loss in children detected as having hearing loss by NHS.</p><p></p><p>　However, it was thought that it is difficult to determine the degree of hearing loss based on genetic testing alone. Furthermore, it is necessary to consider that there are atypical patients, such as those that show progressive hearing loss.</p>

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