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.