| Autor: |
Ishikawa, Kotaro, Tamagawa, Yuya, Takahashi, Katsumasa, Kimura, Hiroshi, Kusakari, Jun, Hara, Akira, Ichimura, Keiichi |
| Zdroj: |
Laryngoscope; 2002, Vol. 112 Issue 8, p1494-1499, 6p |
| Abstrakt: |
Objectives The aims of the present study were to identify a mutation in a Japanese family showing nonsyndromic sensorineural hearing loss and to relate the mutation to characteristics of patients, including audiovestibular findings. Study Design Familial cohort study. Methods Mutation analysis was performed using genomic DNA extracted from blood samples. Subjects underwent audiovestibular examinations, including pure-tone audiograms, tympanometry, self-recording audiometry, acoustic reflex threshold, speech discrimination testing, evoked and distortion-product otoacoustic emissions, auditory brainstem responses, and caloric testing. Results We identified a T7511C mutation in the mitochondrial tRNASer(UCN) gene previously reported in one other family. The degree of heteroplasmy for the T7511C mutation ranged from 84% to 92%, and did not correlate with age at examination or severity of hearing loss. Extensive audiologic evaluation suggested both cochlear and retrocochlear involvement. Conclusion Families with maternally transmitted nonsyndromic hearing loss should be investigated for mutations in the tRNASer(UCN) gene. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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