非症候群性遺伝性難聴とアミノ配糖体感受性による難聴

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  • Nonsyndromic genetic deafness and aminoglycoside-induced deafness.

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Nonsyndromic genetic deafness is divided into conductive or mixed deafness and sensorineural deafness. The former is mainly comprised of middle ear malformations. Almost all familial cases of middle ear malformations are compatible with autosomal dominant inheritance. The sensorineural form of nonsyndromic genetic deafness is divided according to the mode of inheritance: dominant, recessive, X-linked or mitochondrial. Some genes of nonsyndromic deafness are mapped on chromosomes. Three or four genes are mapped on X chromosome.<BR>Familial occurrence of strepromycin-induced deafness was first reported about forty years ago. Since then some pedigrees of streptomycin-induced deafness have been noted. In 1979 we discovered a peculiar mode of inheritance, inferred to be caused by alterations of mitochondrial DNA. Later, apoint mutation at base pair 1555 of mitochondrial DNA was found.<BR>Recently we detected this mutation responsible for the aminglyconside-induced deafness easily by using restriction fragment length polymorphism (RFLP). We found 1555 mutations also in a case of sensorineural hearing loss of unknown origin. This means that this mutation also probably causes the hearing loss in cases other than aminoglycoside-induced deafness.

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