Hearing impairments and otoferlin gene mutations in children Pedicatric hearing impairments and OTOF

DOI 10 References
  • Nakano Atsuko
    Division of Otolaryngology, Chiba Children's Hospital
  • Arimoto Yukiko
    Division of Otolaryngology, Chiba Children's Hospital
  • Matsunaga Tatsuo
    Department of Otolaryngology, National Institute of Sensory Organs National Tokyo Medical Center
  • Kudo Fumiyo
    Division of Nutrition, Chiba Prefectural Healthcare College

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Other Title
  • Otoferlin遺伝子変異が確認された小児難聴症例の検討

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Abstract

The otoferlin (OTOF) gene is known to be involved in autosomal recessive hearing impairment. OTOF mutations are considered to be a major cause of inherited auditory neuropathy (AN).<BR>A total of 4 children with hearing impairments who were suspected of having AN based on audiological findings and language development delays were studied. All 4 had abnormal auditory brain-stem response (ABR) and normal distortion product otoacoustic emissions (DPOAE), at least on one side. None had inner ear malformations nor other complications or risk factors for AN (e.g., hyperbilirubinemia). Mutations in the OTOF gene were detected in 3 of the 4 cases: compound heterozygous mutations in 1 case and only 1 mutant allele in 2 cases.<BR>The case with the compound heterozygous mutations had passed the newborn-hearing screening test (NHS) and had normal DPOAE at the first test, but an abnormal DPOAE at 5 years of age. Another case passed the NHS using an auto-ABR in the left ear and referred in the right ear, and had normal DPOAE in the left ear and abnormal DPOAE in the right ear. Profound hearing loss with little benefit from use of hearing aids was present in 2 cases. Mild to moderate hearing loss with some benefit received from hearing aids in language acquisition was present in 1 case.<BR>It could be very helpful to investigate mutations in the OTOF gene in order to diagnose AN. Furthermore, detection of mutations in the OTOF gene should lead to appropriate management (such as cochlear implants). However, the recent report also suggested that AN-related mutations in the OTOF have case-by-case differences and that some cases of undiagnosed AN may exist due to abnormal DPOAE. Children with AN should be correctly diagnosed and managed in order to mitigate language development delay.

Journal

  • Otology Japan

    Otology Japan 22 (1), 47-52, 2012

    Japan Otological Society

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