Sensorineural Hearing Loss and Gene Mutation.
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概要
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Pathophysiology of sensorineural hearing impairment which is a common clinical disorder remains yet to be determined. However, some genes responsible for sensorineural hearing impairment have been cloned for the last several years and the mechanism causing hearing impairment has been started to be clarified with the advent of development of molecular genetics. Sensorineural hearing impairment is caused by a point mutation at nucleotide 3243, 1555 and 7445 of mitochondrial DNA. Many forms with nonsyndromic sensorineural hearing impairment by Menderian inheritance have been demonstrated. DFNA 1 to 12 are dominant hearing loss, while DFNB 1 to 12 are recessive form. DFN 1 to 6 are demonstrated to show X linked hearing impairment. Clinical and genetic findings of the above disorders are reviewed. Cloned genes for sensorineural hearing impairment are also described. Mutations in myosin VII A have been identified in DFNB 2. Gap junction protein, beta-2 has been confirmed as a gene responsible for DFNA 3 and DFNB 1. POU 3 F 4 gene causes hearing loss in DFN 3.
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