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A maternal hereditary deafness pedigree of the A1555G mitochondrial mutation, causing aminoglycoside ototoxicity predisposition

Published online by Cambridge University Press:  19 February 2008

Y-H Bai ,
C-C Ren ,
X-R Gong  and
L-P Meng
Y-H Bai
Affiliation:
Department of Neurology, Shanghai Number Five Hospital, Fudan University, Shanghai, PRChina
C-C Ren*
Affiliation:
Department of Neurology, Shanghai Number Five Hospital, Fudan University, Shanghai, PRChina
X-R Gong
Affiliation:
Ear-Nose-Throat, Shanghai Number Five Hospital, Fudan University, Shanghai, PRChina
L-P Meng
Affiliation:
Radiology, Shanghai Number Five Hospital, Fudan University, Shanghai, PRChina
*
Address for correspondence: Dr Chuan-cheng Ren, 801 Heqing Road, Minhang District, Shanghai, PRChina200240. E-mail: [email protected]
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Abstract

Objective:

To characterise the hearing loss, and the frequency of the mitochondrial deoxyribonucleic acid 12S ribosomal ribonucleic acid A1555G mutation, in a large pedigree of aminoglycoside-induced deafness.

Design:

Hearing loss was clinically assessed. Blood samples were collected from 27 family members (19 matrilinear and eight non-matrilinear) and leukocyte deoxyribonucleic acid was extracted. Mitochondrial deoxyribonucleic acid fragments, spanning the 1555 location, were amplified by polymerase chain reaction. Polymerase chain reaction products were analysed by restriction fragment length polymorphism and deoxyribonucleic acid sequencing.

Results:

We detected the A1555G mutation in all 19 matrilinear relatives. Of these 19, two exhibited congenital deafness, four had no hearing deficits and the remaining 13 suffered mild to profound hearing loss.

Conclusion:

We confirmed that the A1555G mutation is a ‘hot spot’ associated with non-syndromic, inherited hearing loss. This mutation may play a vital role in the pathogenesis of hearing impairment, and can result in various grades of deafness.

Keywords

Mitochondrial DNAMutationAminoglycosideToxicitySensorineural Deafness
Type
Main Articles
Information
The Journal of Laryngology & Otology , Volume 122 , Issue 10 , October 2008 , pp. 1037 - 1041
Copyright
Copyright © JLO (1984) Limited 2008

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References

1 Casano, RA, Hamon, M, Fischel-Ghodsian, N, Torricelli, F, Bykhovskaya, Y, Johnson, DF et al. Hearing loss due to the mitochondrial A1555G mutation in Italian families. Am J Med Genet 1998;79:388–913.0.CO;2-N>CrossRefGoogle Scholar
2 Kupka, S, Szyfter, K, Witold, Z, Hans-Peter, Z, Ulrike, N, Grazyna, T et al. Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients. Hum Mutat 2002;19:308–9CrossRefGoogle ScholarPubMed
3 Østergaard, E, Brøndum-Nielsen, K, Montserrat-Sentis, B, Grønskov, K. The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs. Clin Genet 2002;62:303–5CrossRefGoogle ScholarPubMed
4 Tekin, M, Duman, T, Boğoçlu, G, Incesulu, A, Çomak, E, Fitoz, S et al. Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey. Eur J Pediatr 2003;162:154–8CrossRefGoogle ScholarPubMed
5 Hu, DN, Fang, LZ, Zhang, QH, Zhou, F, Qui, WQ, Wu, BT et al. Genetic aspects of antibiotic induced deafness: mitochondrial inheritance. J Med Genet 1991;28:79–83CrossRefGoogle ScholarPubMed
6 Higashi, K. Unique inheritance of streptomycin-induced deafness. Clin Genet 1989;935:433–6CrossRefGoogle Scholar
7 Li, ZY, Liao, ZS, Xiong, SD, Zhu, Y, Li, RH, Chen, JF et al. Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside induced and non-syndromic hearing loss. Hum Genet 2005;117:9–15CrossRefGoogle ScholarPubMed
8 Lehtonen, MS, Majamaa, K, Uimonen, S, Hassinen, IE. Frequency of mitochondrial DNA point mutations among patients with familial sensorineural hearing impairment. Eur J Hum Genet 2000;8:315–18CrossRefGoogle ScholarPubMed
9 Tatsuo, M, Hiroshi, K, Shiroma, M. Deafness due to A1555G mitochondrial mutation without use of aminoglycoside. Laryngoscope 2004;114:1085–91Google Scholar
10 Li, WM, Cao, JY, Han, DY, Yuan, HJ, Wang, YQ, Yang, WY, Jiang, SC. Sequence analysis of mtDNA 12S rRNA, tRNALeu(UUR), tRNASer(UCN) and 16S rRNA genes of 12 nonsyndromic inherited deafness pedigrees [in Chinese]. Chin J Med Genet 2001;18:415–20Google Scholar
11 Guan, MX, Fischel-Ghodsian, N, Attardi, G. A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity. Hum Mol Genet 2000;9:1787–93CrossRefGoogle ScholarPubMed
12 Zhao, H, Li, RH, Li, XM, Cao, JY, Young, WY, Yan, QF et al. Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and nonsyndromic hearing loss. Nucleic Acid Res 2005;33:1132–9CrossRefGoogle Scholar
13 Fischel-Ghodsian, N. Mitochondrial deafness mutations reviewed. Hum Mutat 1999;13:261–703.0.CO;2-W>CrossRefGoogle ScholarPubMed
14 Prezant, TR, Bu, X, Arnos, KS, Oztas, S, Agapian, JV, Bohlman, MC et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic induced and non-syndromic deafness. Nat Genet 1993;4:289–94CrossRefGoogle ScholarPubMed
15 Li, R, Cao, X, Guan, MX, Liu, XZ, Xing, GQ, Han, M et al. Cosegregation of C-insertion at position 961 with A1555G mutation of mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss. Am J Med Genet 2004;124:113–17CrossRefGoogle Scholar
16 Estivill, X, Romero, E, Zeviani, M, Badenas, C, Scozzri, R, Govea, N, Moral, L, D'Urbano, L, Barceló, E, Torroni, A. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides. Am J Hum Genet 1998;62:27–35CrossRefGoogle Scholar
17 Malik, SG, Kadir, AM, Sangkot, P, Nova, S, Herawati, S. Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia. J Hum Genet 2003;48:480–3CrossRefGoogle ScholarPubMed