High-frequency involved hearing loss caused by novel mitochondrial DNA mutation in 16S ribosomal RNA gene.
OBJECTIVE
To clarify the responsible gene for a family associated with hearing loss but having no well-known mitochondrial mutations.


METHODS
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.


CONCLUSIONS
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.
*Abe ENT Clinic, Tokyo; †Department of Otorhinolaryngology, Toranomon Hospital, Tokyo; ‡Department of Clinical Genomics, Biomedical Laboratories, Inc., Kawagoe; and §Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan.
Satoko
S
Abe
Makoto
M
Nagano
Shin-Ya
SY
Nishio
Kozo
K
Kumakawa
Shin-Ichi
S
Usami
D000328:Adult; D017668:Age of Onset; D004272:DNA, Mitochondrial / Q000235:genetics*; D005192:Family Health; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D010375:Pedigree; D010897:Pitch Discrimination; D017354:Point Mutation; D012336:RNA, Ribosomal, 16S / Q000235:genetics*
D004272:DNA, Mitochondrial; D012336:RNA, Ribosomal, 16S