Abstract
Fourteen patients with a Pendred syndrome gene ( Pds) mutation and three patients without the mutation were studied to evaluate long-term vestibular and auditory manifestations among patients with bilateral enlarged vestibular aqueducts (EVA). Charts were reviewed retrospectively for age, gender, otological history, presence or absence of vertigo, results of magnetic resonance imaging, relevant gene mutations and perchlorate discharge test. A missense mutation, His 723 Arg (H723R), was identified in the homozygous state in six patients and in the heterozygous state in seven patients. Another missense mutation, Tyr 410 Met (T410 M), was identified in the heterozygous state in one patient. Patients with vertigo tended to have hearing fluctuation, compared with the patients without vertigo. Patients homozygous for H723R tended to have more episodes of vertigo than the heterozygous individuals. Only one patient who was homozygous for H723R had goiter. The long-term outcome of hearing level in patients with the H723R mutation was significantly better compared with published results for patients with a Pds mutation, but not for those with the H723R mutation. Whether environmental factors or a subtype of the Pds mutation H723R are related to the long-term outcome for these patients must be clarified.
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Acknowledgements
This study was supported by research grants from the Ministry of Health, Labor and Welfare and from the Ministry of Education, Culture, Sports, Science and Technology (Young Scientists grants B-15790932, B-15390515) in Japan. We thank Dr. Yoshitaka Miura, from the First Department of Internal Medicine, Nagoya University School of Medicine, for helping with the genetic analysis in this report. We also thank Drs. Kenji Wakai and Nobuyuki Hamajima, from the Department of Preventive Medicine, Nagoya University School of Medicine, for advice with the statistical analysis.
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Part of this paper was presented at the 61st Conference of the Japanese Society of Equilibrium Research held in Toyama, Japan, 1 November 2002.
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Sugiura, M., Sato, E., Nakashima, T. et al. Long-term follow-up in patients with Pendred syndrome: vestibular, auditory and other phenotypes. Eur Arch Otorhinolaryngol 262, 737–743 (2005). https://doi.org/10.1007/s00405-004-0884-z
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DOI: https://doi.org/10.1007/s00405-004-0884-z