Journal
OTOLARYNGOLOGY-HEAD AND NECK SURGERY
Volume 148, Issue 6, Pages 1017-1022Publisher
SAGE PUBLICATIONS INC
DOI: 10.1177/0194599813482705
Keywords
deafness; mitochondria; aminoglycoside; nonsyndromic hearing loss; DNA mutations; matrilineal inheritance
Categories
Funding
- National Institutes of Health [0R01DC00-6707]
Ask authors/readers for more resources
Objectives To characterize mitochondrial sequence variants present in a nationwide hereditary deafness DNA repository of samples from deaf subjects and to define the clinical presentation and audiometric characteristics of individuals with a mitochondrial sequence variant. Study Design Retrospective review of results for select mitochondrial mutations performed on DNA samples from subjects compiled from 1997 to 2009. Setting National hereditary deafness DNA repository. Subjects and Methods Available samples from subjects in the repository were screened to identify those with mitochondrial sequence variants. Clinical data on the nature of mutation, type and severity of the hearing loss, and sex, age at diagnosis, family history of hearing loss, and ethnicity were analyzed. Results Eighty-six patients were identified with mitochondrial mutations or 3.5% of the subjects studied. Among those with mitochondrial mutations, 21 (24.4%) had the m.7445A>G substitution, 18 (20.9%) had the m.1555A>G substitution, 18 (20.9%) had the m.961T>G substitution, and 29 (33.7%) had a m.961delT+C(n) complex deletion. The majority of patients had bilateral severe to profound hearing loss. Fifty-three (62%) patients were female, and a family history of hearing loss was documented in 66 (76.7%) patients. The deafness was recognized prior to 3 years of age in 26 patients. Conclusion Mitochondrial deafness in this sample was associated with a variety of genetic mutations and a wide spectrum of clinical presentations. Because of increased aminoglycoside susceptibility associated with some forms of mitochondrial deafness, matrilineal relatives may be at risk in those cases, highlighting the importance of making an accurate diagnosis prior to exposure.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available