C1494T Mutation In The 12S rRna Gene

The homoplasmic C1494T mutation was recently identified in a large Chinese family with AID and maternal inheritance.1-14-1 Twenty of 39 matrilineal relatives, who are supposed to carry the mutation, exhibited hearing loss. Clinical data have shown that the treatment with amino-glycosides can induce or worsen deafness in matrilineal relatives. The mutation occurs at a position where the A at position 1555 can make a pair with the mutant base (Fig. 1D). Additional data indicated that the cell lines derived from carriers showed a lower rate of total oxygen consumption and a significant increase in doubling time with the high concentration of aminoglycosides. Nuclear background probably plays a role in the deafness phe-notype and AID with the C1494T mutation.[14]

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