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Vestibular disorders and molecular cell biology. Yoshihiro Noguchi 1,2 , Kiyoto Kurima 2 1Department of Otolaryngology, Graduate School of Medicine, Tokyo Medical and Dental University 2Section on Gene Structure and Function, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health (NIH) 5 Research Court Keyword: めまい , 前庭障害 , 難聴 , 遺伝子 pp.159-166
Published Date 2005/4/10
DOI https://doi.org/10.11477/mf.1431100033
  • Abstract
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Although genetic components are likely to be involved in the etiology of peripheral vestibular disorders, such as benign paroxysmal positional vertigo and Meniere's disease, the causative genes for vestibular disorders alone have not been identified. Mutations of some genes that cause deafness, however, are known to cause vestibular dysfunctions. Among the causative genes for hereditary non-syndromic deafness, mutations of COCH cause progressive sensorineural hearing loss and vestibular symptoms. Moreover, 15% of the patients with COCH mutations have the impairment clinically met the criteria for definite Meniere's disease. ESPN mutations are responsible for valance disorder and/or vestibular areflexia. A patient with a SLC26A4 mutation has fluctuating hearing loss and repeatable vertigo attacks. Other causative genes of non-syndromic deafness that cause vestibular disorders include KCNQ4, COL11A2 and mitochondorial 12SrRNA. The genes responsible for syndromic deafness, such as Usher syndrome typeⅠ(USH1)and Ⅲ(USH3), can also cause vestibular dysfunction. USH1 is a genetically heterogeneous disorder and five causative genes have been identified, namely MYO7A, USH1C, CDH23, PCDH15, and SANS. Branchio-oto-renal(BOR)syndrome caused by EYA1 mutations is an autosomal dominant hearing impairment associated with branchial arch system and renal anomalies,and can cause repeatable vertigo attacks.


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電子版ISSN 1882-1243 印刷版ISSN 0001-8724 医学書院

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