High-Frequency Involved Hearing Loss Caused by Novel Mitochondrial DNA Mutation in 16S Ribosomal RNA Gene

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Abstract

Objective

To clarify the responsible gene for a family associated with hearing loss but having no well-known mitochondrial mutations.

Subjects

A Japanese family showing late-onset, progressive, and ski-sloping sensorineural hearing loss.

Results

Whole mitochondrial genome sequencing identified the 1673T>C mutation, a novel mitochondrial DNA mutation in the 16S ribosomal RNA gene.

Conclusion

Whole mitochondrial genome sequencing is a powerful tool to identify the responsible gene for plausible mitochondrially inherited families. This is additional evidence that mitochondrial gene mutations may cause late-onset, progressive, and ski-sloping sensorineural hearing loss.

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