Abstract | CONCLUSIONS: OBJECTIVE: The aim was to characterize the audiological and genetic features of NSHL due to mutations in mtDNA. SUBJECTS AND METHODS: The mtDNA and audiogram analyses were performed in 498 NSHL patients (290 from China and 208 from the USA) with and without history of aminoglycoside exposure. A PCR and restriction enzyme digestion protocol was used for mutational screening and the European Workshop on Genetic Hearing Loss criteria were applied for audiological classification. RESULTS: All Chinese probands (15.5%) with mtDNA mutation were found to carry the homoplasmic mtDNA A1555G mutation, whereas four probands (1.9%) from the USA were found to carry the mtDNA A1555G and two (1%) had mtDNA G7444A. Approximately 63% of the probands with mtDNA mutations had post-lingual hearing loss and 56.8% of them had a medical history of exposure to aminoglycosides. Hearing losses are bilateral, sensorineural, and symmetric. The main audiogram shapes found were sloping.
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Authors | X Z Liu, S Angeli, X M Ouyang, W Liu, X M Ke, Y H Liu, S X Liu, L L Du, X W Deng, H Yuan, D Yan |
Journal | Acta oto-laryngologica
(Acta Otolaryngol)
Vol. 128
Issue 7
Pg. 732-8
(Jul 2008)
ISSN: 0001-6489 [Print] England |
PMID | 18568513
(Publication Type: Comparative Study, Journal Article, Multicenter Study, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
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Chemical References |
- Aminoglycosides
- DNA, Mitochondrial
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Topics |
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Aminoglycosides
(adverse effects)
- Asian People
- Audiometry, Pure-Tone
- Child
- China
(epidemiology)
- DNA, Mitochondrial
(genetics)
- Deafness
(chemically induced, genetics, physiopathology)
- Gene Frequency
- Hearing
(physiology)
- Hearing Loss, Sensorineural
(epidemiology, genetics, physiopathology)
- Humans
- Middle Aged
- Mutation
- Polymerase Chain Reaction
- United States
(epidemiology)
- White People
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