Article
Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness.
Biochemical and biophysical research communications - 3 Feb 2006
Dai Pu, Liu Xin, Han Dongyi, Qian Yaping, Huang Deliang, Yuan Huijun, Li Weiming, Yu Fei, Zhang Ruining, Lin Hongyan, He Yong, Yu Youjun, Sun Quanzhu, Qin Huaiyi, Li Ronghua, Zhang Xin, Kang Dongyang, Cao Juyang, Young Wie-Yen, Guan Min-Xin
Abstract excerpt
Mutations in mitochondrial DNA (mtDNA) have been found to be associated with sensorineural hearing loss. We report here the clinical, genetic, and molecular characterization of 16 Chinese pedigrees (a total of 246 matrilineal relatives) with aminoglycoside-induced impairment. Clinical evaluation revealed the variable phenotype of hearing impairment including audiometric configuration in these subjects, although...
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